A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517923



Internal ID15098530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128805212..128876891hg38UCSC Ensembl
Innerchr7:128445266..128516945hg19UCSC Ensembl
Innerchr7:128232502..128304181hg18UCSC Ensembl
Innerchr7:128039217..128110896hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3871680
hg1971680
hg1871680
hg1771680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695334
Samples
Known GenesATP6V1F, CCDC136, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517923
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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