A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1088032



Internal ID15594532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76504886..77074928hg38UCSC Ensembl
Innerchr7:76134203..76704245hg19UCSC Ensembl
Innerchr7:75972139..76542181hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38570043
hg19570043
hg18570043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607593
Supporting Variants
Samples
Known GenesDTX2, DTX2P1-UPK3BP1-PMS2P11, LOC100132832, LOC100133091, POMZP3, UPK3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1088032
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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