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dbVar

Database of genomic structural variation

nsv3912305

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:7,261,520

Description:NCBI36/hg18 1p36.23-36.13(chr1:8941506-16358337)x3 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: 23624 SVs from 131 studies. See in: genome view

Remapped(Score: Good):8,930,031-16,191,550

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
nsv3912305	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	8,930,031	8,930,031	16,191,550	16,191,550
nsv3912305	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	8,990,090	8,990,090	16,518,045	16,518,045
nsv3912305	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	8,912,677	8,941,506	16,358,337	16,390,632

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128051	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000452027.2, VCV000399124.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15128051	Remapped	Good	NC_000001.11:g.(89 30031_8930031)_(16 191550_16191550)du p	GRCh38.p12	First Pass	NC_000001.11	Chr1	8,930,031	8,930,031	16,191,550	16,191,550
nssv15128051	Remapped	Good	NC_000001.10:g.(89 90090_8990090)_(16 518045_16518045)du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	8,990,090	8,990,090	16,518,045	16,518,045
nssv15128051	Submitted genomic		NC_000001.9:g.(891 2677_8941506)_(163 58337_16390632)dup	NCBI36 (hg18)		NC_000001.9	Chr1	8,912,677	8,941,506	16,358,337	16,390,632

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
nssv15128051	NCBI36: NC_000001.9:g.(8912677_8941506)_(16358337_16390632)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000452027.2, VCV000399124.2	3

No genotype data were submitted for this variant

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