A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961538



Internal ID18596784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:180579792..180581270hg38UCSC Ensembl
Innerchr2:181444519..181445997hg19UCSC Ensembl
Innerchr2:181152764..181154242hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381479
hg191479
hg181479
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2213073, nssv2213075, nssv2213072, nssv2213069, nssv2213068, nssv2213066, nssv2213071, nssv2213070, nssv2213074, nssv2213067
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961538
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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