A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697608



Internal ID15087574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:135368016..135587522hg38UCSC Ensembl
Innerchr7:135052768..135272270hg19UCSC Ensembl
Innerchr7:134703308..134922810hg18UCSC Ensembl
Innerchr7:134510023..134729525hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38219507
hg19219503
hg18219503
hg17219503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520786
Supporting Variants
Samples
Known GenesCNOT4, NUP205
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697608
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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