A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525117



Internal ID15105724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74131774..74147514hg38UCSC Ensembl
Innerchr2:74358901..74374641hg19UCSC Ensembl
Innerchr2:74212409..74228149hg18UCSC Ensembl
Innerchr2:74270556..74286296hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3815741
hg1915741
hg1815741
hg1715741
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701182
Samples
Known GenesBOLA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525117
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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