A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3749520



Internal ID18701115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:122467666..122706716hg38UCSC Ensembl
Innerchr6:122788811..123027861hg19UCSC Ensembl
Innerchr6:122830510..123069560hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38239051
hg19239051
hg18239051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1018215
Supporting Variants
Samples
Known GenesPKIB, SERINC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3749520
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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