A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608409



Internal ID16049132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128843173..128911686hg38UCSC Ensembl
Innerchr7:128483227..128551740hg19UCSC Ensembl
Innerchr7:128270463..128338976hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3868514
hg1968514
hg1868514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094507
Samples
Known GenesATP6V1F, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608409
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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