A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608403



Internal ID16395812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128805212..128881377hg38UCSC Ensembl
Innerchr7:128445266..128521431hg19UCSC Ensembl
Innerchr7:128232502..128308667hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3876166
hg1976166
hg1876166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11611n54
Supporting Variantsnssv1155227, nssv1094502
SamplesHGDP00602
Known GenesATP6V1F, CCDC136, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608403
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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