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

dbVar

Database of genomic structural variation

nsv3895399

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:159,241

Description:GRCh37/hg19 10q23.1(chr10:84232776-84392016)x1 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: 501 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):82,473,020-82,632,260

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3895399	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	82,473,020	82,632,260
nsv3895399	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	84,232,776	84,392,016

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15140986	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000446505.3, VCV000394806.3	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15140986	Remapped	Perfect	NC_000010.11:g.(?_ 82473020)_(8263226 0_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	82,473,020	82,632,260
nssv15140986	Submitted genomic		NC_000010.10:g.(?_ 84232776)_(8439201 6_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	84,232,776	84,392,016

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
nssv15140986	GRCh37: NC_000010.10:g.(?_84232776)_(84392016_?)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000446505.3, VCV000394806.3	1

No genotype data were submitted for this variant

You are here: NCBI