A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3675067



Internal ID18973348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:1800775..1917721hg38UCSC Ensembl
Innerchr8:1748941..1865887hg19UCSC Ensembl
Innerchr8:1736348..1853294hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38116947
hg19116947
hg18116947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1017597
Supporting Variants
Samples
Known GenesARHGEF10, MIR596
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3675067
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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