A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607622



Internal ID16048345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76556311..76999893hg38UCSC Ensembl
Innerchr7:76185628..76629210hg19UCSC Ensembl
Innerchr7:76023564..76467146hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38443583
hg19443583
hg18443583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11464n54
Supporting Variantsnssv1088468
Samples
Known GenesDTX2P1-UPK3BP1-PMS2P11, LOC100133091, POMZP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607622
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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