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dbVar

Database of genomic structural variation

nsv984833

Organism: Homo sapiens

Study:nstd11 (Walter et al. 2009)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI36 (hg18)

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:33,711,237

Publication(s):Walter et al. 2009

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: 106632 SVs from 145 studies. See in: genome view

Remapped(Score: Pass):12,965,809-46,677,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv984833	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	12,965,809	46,677,045
nsv984833	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	10,736,871	48,096,957
nsv984833	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000021.7	Chr21	9,758,742	46,921,385

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv459337	copy number gain	SNP array	SNP genotyping analysis	Leukemia, Myeloid, Acute	not provided	Submitter
nssv459342	copy number gain	SNP array	SNP genotyping analysis	Leukemia, Myeloid, Acute	not provided	Submitter
nssv459375	copy number gain	SNP array	SNP genotyping analysis	Leukemia, Myeloid, Acute	not provided	Submitter

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv459337	Remapped	Pass	NC_000021.9:g.(?_1 2965809)_(46677045 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	12,965,809	46,677,045
nssv459342	Remapped	Pass	NC_000021.9:g.(?_1 2965809)_(46677045 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	12,965,809	46,677,045
nssv459375	Remapped	Pass	NC_000021.9:g.(?_1 2965809)_(46677045 _?)dup	GRCh38.p12	First Pass	NC_000021.9	Chr21	12,965,809	46,677,045
nssv459337	Remapped	Good	NC_000021.8:g.(?_1 0736871)_(48096957 _?)dup	GRCh37.p13	First Pass	NC_000021.8	Chr21	10,736,871	48,096,957
nssv459342	Remapped	Good	NC_000021.8:g.(?_1 0736871)_(48096957 _?)dup	GRCh37.p13	First Pass	NC_000021.8	Chr21	10,736,871	48,096,957
nssv459375	Remapped	Good	NC_000021.8:g.(?_1 0736871)_(48096957 _?)dup	GRCh37.p13	First Pass	NC_000021.8	Chr21	10,736,871	48,096,957
nssv459337	Submitted genomic		NC_000021.7:g.(?_9 758742)_(46921385_ ?)dup	NCBI36 (hg18)		NC_000021.7	Chr21	9,758,742	46,921,385
nssv459342	Submitted genomic		NC_000021.7:g.(?_9 758742)_(46921385_ ?)dup	NCBI36 (hg18)		NC_000021.7	Chr21	9,758,742	46,921,385
nssv459375	Submitted genomic		NC_000021.7:g.(?_9 758742)_(46921385_ ?)dup	NCBI36 (hg18)		NC_000021.7	Chr21	9,758,742	46,921,385

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation
nssv459337	NCBI36: NC_000021.7:g.(?_9758742)_(46921385_?)dup	copy number gain	somatic	Leukemia, Myeloid, Acute	not provided	Submitter
nssv459342	NCBI36: NC_000021.7:g.(?_9758742)_(46921385_?)dup	copy number gain	somatic	Leukemia, Myeloid, Acute	not provided	Submitter
nssv459375	NCBI36: NC_000021.7:g.(?_9758742)_(46921385_?)dup	copy number gain	somatic	Leukemia, Myeloid, Acute	not provided	Submitter

No genotype data were submitted for this variant

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