A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961927



Internal ID18597173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208214573..208222543hg38UCSC Ensembl
Innerchr2:209079297..209087267hg19UCSC Ensembl
Innerchr2:208787542..208795512hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387971
hg197971
hg187971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2218947, nssv2218950, nssv2218942, nssv2218951, nssv2218946, nssv2218948, nssv2218945, nssv2218944, nssv2218943, nssv2218949
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)nsv961927
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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