A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521474



Internal ID15448767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212919736..212930030hg38UCSC Ensembl
Innerchr2:213784460..213794754hg19UCSC Ensembl
Innerchr2:213492705..213502999hg18UCSC Ensembl
Innerchr2:213609966..213620260hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3810295
hg1910295
hg1810295
hg1710295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698085
Samples
Known GenesMIR4776-1, MIR4776-2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521474
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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