A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088044



Internal ID15594544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515243..76880902hg38UCSC Ensembl
Innerchr7:76144560..76510219hg19UCSC Ensembl
Innerchr7:75982496..76348155hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38365660
hg19365660
hg18365660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607601
Supporting Variants
Samples
Known GenesLOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1088044
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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