A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607625



Internal ID16048348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76560290..76978826hg38UCSC Ensembl
Innerchr7:76189607..76608143hg19UCSC Ensembl
Innerchr7:76027543..76446079hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38418537
hg19418537
hg18418537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11464n54
Supporting Variantsnssv1088471, nssv1088470
Samples
Known GenesLOC100133091, POMZP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607625
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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