A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524273



Internal ID15451566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:138742403..138845699hg38UCSC Ensembl
Innerchr2:139499973..139603269hg19UCSC Ensembl
Innerchr2:139216443..139319739hg18UCSC Ensembl
Innerchr2:139333705..139437001hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38103297
hg19103297
hg18103297
hg17103297
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700171
Samples
Known GenesNXPH2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524273
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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