A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979022



Internal ID18267539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73670678..73704946hg38UCSC Ensembl
Innerchr2:73897805..73932073hg19UCSC Ensembl
Innerchr2:73751313..73785581hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3834269
hg1934269
hg1834269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2178629, nssv2178633, nssv2178632, nssv2178634, nssv2178627, nssv2178630, nssv2178631, nssv2178636, nssv2178635, nssv2178628
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesALMS1P, NAT8B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979022
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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