A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699723



Internal ID15436375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19412332..19608877hg38UCSC Ensembl
Innerchr13:19986472..20183017hg19UCSC Ensembl
Innerchr13:18884472..19081017hg18UCSC Ensembl
Innerchr13:18884472..19081017hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg38196546
hg19196546
hg18196546
hg17196546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523881
Supporting Variants
Samples
Known GenesTPTE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699723
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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