A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515554



Internal ID15443165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120546207..120549106hg38UCSC Ensembl
Innerchr2:121303783..121306682hg19UCSC Ensembl
Innerchr2:121020253..121023152hg18UCSC Ensembl
Innerchr2:121020013..121022912hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg382900
hg192900
hg182900
hg172900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691109, nssv664254, nssv655937, nssv663891, nssv679800, nssv691381, nssv660736, nssv690043, nssv654956, nssv665903, nssv659159, nssv660373, nssv682403, nssv660688, nssv679281, nssv673872, nssv665997, nssv655551, nssv671642
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515554
Frequency
Sample Size2026
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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