A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033609



Internal ID19122830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76977978hg38UCSC Ensembl
Innerchr7:76179702..76607295hg19UCSC Ensembl
Innerchr7:76017638..76445231hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38427594
hg19427594
hg18427594
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6476n100
Supporting Variantsnssv3656644, nssv3656653, nssv3656656, nssv3656643, nssv3656645, nssv3656655, nssv3656658, nssv3656649, nssv3656654, nssv3656657, nssv3656651, nssv3656660, nssv3656650, nssv3656648, nssv3656659, nssv3656652, nssv3656646, nssv3656647
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033609
Frequency
Sample Size11257
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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