A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963784



Internal ID18252338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237762480..237765508hg38UCSC Ensembl
Innerchr2:238671123..238674151hg19UCSC Ensembl
Innerchr2:238335862..238338890hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383029
hg193029
hg183029
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2225527, nssv2225532, nssv2225534, nssv2225530, nssv2225529, nssv2225526, nssv2225535, nssv2225531, nssv2225533, nssv2225528
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLRRFIP1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963784
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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