A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3691499



Internal ID18643094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123597462..123727319hg38UCSC Ensembl
Innerchr8:124609702..124739559hg19UCSC Ensembl
Innerchr8:124678883..124808740hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38129858
hg19129858
hg18129858
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032155
Supporting Variants
Samples
Known GenesANXA13, KLHL38
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3691499
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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