A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3685374



Internal ID18636969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:23302920..23541056hg38UCSC Ensembl
Innerchr8:23160433..23398569hg19UCSC Ensembl
Innerchr8:23216378..23454514hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38238137
hg19238137
hg18238137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1026345
Supporting Variants
Samples
Known GenesENTPD4, LOC100507156, LOXL2, SLC25A37
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3685374
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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