A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516635



Internal ID15443928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93282098..93299685hg38UCSC Ensembl
Innerchr12:93675874..93693461hg19UCSC Ensembl
Innerchr12:92200005..92217592hg18UCSC Ensembl
Innerchr12:92178342..92195929hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3817588
hg1917588
hg1817588
hg1717588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683917, nssv669770, nssv681574
Samples
Known GenesLOC643339
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516635
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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