A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516370



Internal ID15096977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69801243..69820364hg38UCSC Ensembl
Innerchr10:71560999..71580120hg19UCSC Ensembl
Innerchr10:71231005..71250126hg18UCSC Ensembl
Innerchr10:71231005..71250126hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3819122
hg1919122
hg1819122
hg1719122
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv693457, nssv667820
Samples
Known GenesCOL13A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516370
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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