A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525100



Internal ID15105707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29423584..29433022hg38UCSC Ensembl
Innerchr12:29576517..29585955hg19UCSC Ensembl
Innerchr12:29467784..29477222hg18UCSC Ensembl
Innerchr12:29467784..29477222hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg389439
hg199439
hg189439
hg179439
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701159
Samples
Known GenesOVCH1, OVCH1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525100
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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