A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517748



Internal ID15445041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:53687569..53698772hg38UCSC Ensembl
Innerchr20:52304108..52315311hg19UCSC Ensembl
Innerchr20:51737515..51748718hg18UCSC Ensembl
Innerchr20:51737515..51748718hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3811204
hg1911204
hg1811204
hg1711204
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv671007, nssv664807, nssv682024, nssv704809, nssv682438, nssv681286, nssv669775, nssv672470, nssv672484, nssv662345, nssv692281, nssv668790, nssv653096
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517748
Frequency
Sample Size2026
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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