A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963773



Internal ID18599013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:211773825..211780867hg38UCSC Ensembl
Innerchr2:212638550..212645592hg19UCSC Ensembl
Innerchr2:212346795..212353837hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg387043
hg197043
hg187043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2219861, nssv2218554, nssv2218557, nssv2219858, nssv2219860, nssv2218556, nssv2219859, nssv2218555, nssv2218553, nssv2218558
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesERBB4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963773
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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