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

dbVar

Database of genomic structural variation

nsv7094776

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:1,457,671

Description:NC_000016.9:g.(?_27441393)_(28899063_?)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: 4202 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):27,430,072-28,887,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094776	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	27,430,072	28,887,742
nsv7094776	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	27,441,393	28,899,063

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791677	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003105580.2, VCV002423886.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791677	Remapped	Perfect	NC_000016.10:g.(?_ 27430072)_(2888774 2_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	27,430,072	28,887,742
nssv18791677	Submitted genomic		NC_000016.9:g.(?_2 7441393)_(28899063 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	27,441,393	28,899,063

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
nssv18791677	GRCh37: NC_000016.9:g.(?_27441393)_(28899063_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003105580.2, VCV002423886.2

No genotype data were submitted for this variant

You are here: NCBI