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dbVar

Database of genomic structural variation

nsv6636817

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:2,191,332

Description:GRCh37/hg19 1p31.1(chr1:69989275-72180606)x1 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: 5040 SVs from 98 studies. See in: genome view

Remapped(Score: Perfect):69,523,592-71,714,923

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	69,523,592	71,714,923
nsv6636817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	69,989,275	72,180,606

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329324	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002475801.1, VCV001809428.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329324	Remapped	Perfect	NC_000001.11:g.(?_ 69523592)_(7171492 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	69,523,592	71,714,923
nssv18329324	Submitted genomic		NC_000001.10:g.(?_ 69989275)_(7218060 6_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	69,989,275	72,180,606

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
nssv18329324	GRCh37: NC_000001.10:g.(?_69989275)_(72180606_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002475801.1, VCV001809428.1	1

No genotype data were submitted for this variant

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