A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702607



Internal ID15092573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12034084..12693647hg38UCSC Ensembl
Innerchr8:11891593..12551156hg19UCSC Ensembl
Innerchr8:11929002..12595527hg18UCSC Ensembl
Innerchr8:11929002..12595527hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38659564
hg19659564
hg18666526
hg17666526
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)nssv702607
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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