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dbVar

Database of genomic structural variation

nsv6312205

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:79,097

Description:
See descriptions for individual calls in download files

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: 364 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):62,306,473-62,385,569

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312205	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	62,306,473	62,385,569
nsv6312205	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	61,602,300	61,681,396

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974313	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001880771.2, VCV001373514.2
nssv17974953	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001927975.3, VCV001410131.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974313	Remapped	Perfect	NC_000005.10:g.(?_ 62306473)_(6238556 9_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	62,306,473	62,385,569
nssv17974953	Remapped	Perfect	NC_000005.10:g.(?_ 62306473)_(6238556 9_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	62,306,473	62,385,569
nssv17974313	Submitted genomic		NC_000005.9:g.(?_6 1602300)_(61681396 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	61,602,300	61,681,396
nssv17974953	Submitted genomic		NC_000005.9:g.(?_6 1602300)_(61681396 _?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	61,602,300	61,681,396

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
nssv17974313	GRCh37: NC_000005.9:g.(?_61602300)_(61681396_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001880771.2, VCV001373514.2
nssv17974953	GRCh37: NC_000005.9:g.(?_61602300)_(61681396_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001927975.3, VCV001410131.3

No genotype data were submitted for this variant

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