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

dbVar

Database of genomic structural variation

nsv3896123

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:10,415

Description:GRCh37/hg19 12q24.21(chr12:116526507-116536921)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: 126 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):116,088,702-116,099,116

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3896123	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	116,088,702	116,099,116
nsv3896123	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	116,526,507	116,536,921

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15172086	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000750593.2, VCV000613957.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15172086	Remapped	Perfect	NC_000012.12:g.(?_ 116088702)_(116099 116_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	116,088,702	116,099,116
nssv15172086	Submitted genomic		NC_000012.11:g.(?_ 116526507)_(116536 921_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	116,526,507	116,536,921

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
nssv15172086	GRCh37: NC_000012.11:g.(?_116526507)_(116536921_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000750593.2, VCV000613957.2	1

No genotype data were submitted for this variant

You are here: NCBI