A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701182



Internal ID15091148
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525117
Supporting Variants
Samples
Known GenesBOLA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701182
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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