A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963224



Internal ID18598465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38231700..38232848hg38UCSC Ensembl
Innerchr2:38458842..38459990hg19UCSC Ensembl
Innerchr2:38312346..38313494hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2169566, nssv2169569, nssv2169561, nssv2169565, nssv2169563, nssv2169568, nssv2169564, nssv2169567, nssv2169562, nssv2169560
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)nsv963224
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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