A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694129



Internal ID15084095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130133334..130262436hg38UCSC Ensembl
Innerchr2:130890907..131020009hg19UCSC Ensembl
Innerchr2:130607377..130736479hg18UCSC Ensembl
Innerchr2:130607137..130736239hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38129103
hg19129103
hg18129103
hg17129103
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520559
Supporting Variants
Samples
Known GenesCCDC74B, MED15P9, MZT2B, SMPD4, TUBA3E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694129
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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