A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701328



Internal ID15437980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:52921934..53029113hg38UCSC Ensembl
Innerchr8:53834494..53941673hg19UCSC Ensembl
Innerchr8:53997047..54104226hg18UCSC Ensembl
Innerchr8:53997047..54104226hg17UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38107180
hg19107180
hg18107180
hg17107180
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525238
Supporting Variants
Samples
Known GenesNPBWR1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701328
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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