A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525291



Internal ID15105898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226149346..226157320hg38UCSC Ensembl
Innerchr2:227014062..227022036hg19UCSC Ensembl
Innerchr2:226722306..226730280hg18UCSC Ensembl
Innerchr2:226839567..226847541hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg387975
hg197975
hg187975
hg177975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701396
Samples
Known GenesLOC646736
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525291
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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