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dbVar

Database of genomic structural variation

nsv3921701

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:482,554

Description:NCBI36/hg18 7q34(chr7:141244593-141688186)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 2687 SVs from 104 studies. See in: genome view

Remapped(Score: Good):141,864,108-142,346,661

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3921701	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	141,864,108	141,864,108	142,346,661	-
nsv3921701	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187562.1	Chr7\|NT_18 7562.1	-	1	308,572	-
nsv3921701	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	141,563,908	141,563,908	142,047,860	-
nsv3921701	Remapped	Good	GRCh37.p13	PATCHES	Second Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	6,059	6,059	489,998	-
nsv3921701	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	141,210,377	141,244,593	141,688,186	141,711,593

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126256	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000449935.2, VCV000399082.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126256	Remapped	Pass	NT_187562.1:g.(?_1 )_(308572_?)del	GRCh38.p12	Second Pass	NT_187562.1	Chr7\|NT_18 7562.1	-	1	308,572	-
nssv15126256	Remapped	Good	NC_000007.14:g.(14 1864108_141864108) _(142346661_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	141,864,108	141,864,108	142,346,661	-
nssv15126256	Remapped	Good	NW_003571040.1:g.( 6059_6059)_(489998 _?)del	GRCh37.p13	Second Pass	NW_003571040.1	Chr7\|NW_00 3571040.1	6,059	6,059	489,998	-
nssv15126256	Remapped	Good	NC_000007.13:g.(14 1563908_141563908) _(142047860_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	141,563,908	141,563,908	142,047,860	-
nssv15126256	Submitted genomic		NC_000007.12:g.(14 1210377_141244593) _(141688186_141711 593)del	NCBI36 (hg18)		NC_000007.12	Chr7	141,210,377	141,244,593	141,688,186	141,711,593

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126256	NCBI36: NC_000007.12:g.(141210377_141244593)_(141688186_141711593)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000449935.2, VCV000399082.2	1

No genotype data were submitted for this variant

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