A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963763



Internal ID18252317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202772965..202773675hg38UCSC Ensembl
Innerchr2:203637688..203638398hg19UCSC Ensembl
Innerchr2:203345933..203346643hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38711
hg19711
hg18711
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2217962, nssv2217964, nssv2217961, nssv2217963, nssv2217960, nssv2217957, nssv2217958, nssv2217959, nssv2217956, nssv2217965
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesICA1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963763
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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