A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024142



Internal ID18766675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:38939128..39260845hg38UCSC Ensembl
Innerchr7:38978728..39300444hg19UCSC Ensembl
Innerchr7:38945253..39266969hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38321718
hg19321717
hg18321717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3643867
Samples
Known GenesPOU6F2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024142
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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