A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696578



Internal ID15433230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50498265..50499737hg38UCSC Ensembl
Innerchr7:50565963..50567435hg19UCSC Ensembl
Innerchr7:50533457..50534929hg18UCSC Ensembl
Innerchr7:50340172..50341644hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg381473
hg191473
hg181473
hg171473
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516640
Supporting Variants
Samples
Known GenesDDC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696578
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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