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

dbVar

Database of genomic structural variation

nsv3898147

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:7,436

Description:GRCh37/hg19 12q24.13(chr12:113012622-113020057)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: 211 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):112,574,818-112,582,253

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3898147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	112,574,818	112,582,253
nsv3898147	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	113,012,622	113,020,057

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15157965	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000738057.2, VCV000601421.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15157965	Remapped	Perfect	NC_000012.12:g.(?_ 112574818)_(112582 253_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	112,574,818	112,582,253
nssv15157965	Submitted genomic		NC_000012.11:g.(?_ 113012622)_(113020 057_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	113,012,622	113,020,057

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
nssv15157965	GRCh37: NC_000012.11:g.(?_113012622)_(113020057_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000738057.2, VCV000601421.2	1

No genotype data were submitted for this variant

You are here: NCBI