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dbVar

Database of genomic structural variation

nsv4674113

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:342,376

Description:GRCh37/hg19 1p36.22(chr1:11086990-11429365)x3 AND not provided

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: 978 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):11,026,933-11,369,308

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674113	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	11,026,933	11,369,308
nsv4674113	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	11,086,990	11,429,365

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16206470	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001005067.1, VCV000814055.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16206470	Remapped	Perfect	NC_000001.11:g.(?_ 11026933)_(1136930 8_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	11,026,933	11,369,308
nssv16206470	Submitted genomic		NC_000001.10:g.(?_ 11086990)_(1142936 5_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	11,086,990	11,429,365

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
nssv16206470	GRCh37: NC_000001.10:g.(?_11086990)_(11429365_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001005067.1, VCV000814055.1	3

No genotype data were submitted for this variant

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