A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694438



Internal ID15084404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12034084..12712690hg38UCSC Ensembl
Innerchr8:11891593..12570199hg19UCSC Ensembl
Innerchr8:11929002..12614570hg18UCSC Ensembl
Innerchr8:11929002..12614570hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38678607
hg19678607
hg18685569
hg17685569
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516685
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694438
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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