A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018356



Internal ID18760889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76506401..76967575hg38UCSC Ensembl
Innerchr7:76135718..76596892hg19UCSC Ensembl
Innerchr7:75973654..76434828hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38461175
hg19461175
hg18461175
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6479n100
Supporting Variantsnssv3755338, nssv3656544
Samples
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018356
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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