Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4682627

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:3,205

Description:NC_000009.12:g.(?_128537976)_(128541180_?)del 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: 85 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):128,537,976-128,541,180

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682627	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	128,537,976	128,541,180
nsv4682627	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	131,300,255	131,303,459

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213091	deletion	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001031148.6, VCV000830522.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213091	Remapped	Perfect	NC_000009.12:g.(?_ 128537976)_(128541 180_?)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	128,537,976	128,541,180
nssv16213091	Submitted genomic		NC_000009.11:g.(?_ 131300255)_(131303 459_?)del	GRCh37 (hg19)		NC_000009.11	Chr9	131,300,255	131,303,459

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
nssv16213091	GRCh37: NC_000009.11:g.(?_131300255)_(131303459_?)del	deletion	germline	not provided	Likely pathogenic	ClinVar	RCV001031148.6, VCV000830522.6

No genotype data were submitted for this variant

You are here: NCBI