A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032137



Internal ID19121359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:74697471..75115763hg38UCSC Ensembl
Innerchr7:74111803..74531569hg19UCSC Ensembl
Innerchr7:73749739..74169505hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38418293
hg19419767
hg18419767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3656492
Samples
Known GenesGTF2I, GTF2IRD2, GTF2IRD2B, NCF1, PMS2P5, STAG3L2, WBSCR16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032137
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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