A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963235



Internal ID18598476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:60709587..60714203hg38UCSC Ensembl
Innerchr2:60936722..60941338hg19UCSC Ensembl
Innerchr2:60790226..60794842hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2173020, nssv2173019, nssv2173018, nssv2173022, nssv2173024, nssv2173025, nssv2173021, nssv2173017, nssv2173026, nssv2173023
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)nsv963235
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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