A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701787



Internal ID15438439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128843173..128863489hg38UCSC Ensembl
Innerchr7:128483227..128503543hg19UCSC Ensembl
Innerchr7:128270463..128290779hg18UCSC Ensembl
Innerchr7:128077178..128097494hg17UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3820317
hg1920317
hg1820317
hg1720317
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517371
Supporting Variants
Samples
Known GenesATP6V1F, FLNC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701787
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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