A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961800



Internal ID18597046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:84914160..84917298hg38UCSC Ensembl
Innerchr2:85141284..85144422hg19UCSC Ensembl
Innerchr2:84994795..84997933hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383139
hg193139
hg183139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2180818, nssv2180820, nssv2180815, nssv2180817, nssv2180823, nssv2180822, nssv2180814, nssv2180816, nssv2180821, nssv2180819
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)nsv961800
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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