A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022999



Internal ID18765532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76550385..76967575hg38UCSC Ensembl
Innerchr7:76179702..76596892hg19UCSC Ensembl
Innerchr7:76017638..76434828hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38417191
hg19417191
hg18417191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6476n100
Supporting Variantsnssv3656641
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)nsv1022999
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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