A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974792



Internal ID18263315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28773873..28830438hg38UCSC Ensembl
Innerchr16:28785194..28841759hg19UCSC Ensembl
Innerchr16:28692695..28749260hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3856566
hg1956566
hg1856566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2053466, nssv2053467, nssv2053469, nssv2053463, nssv2053465, nssv2053471, nssv2053468, nssv2053462, nssv2053470, nssv2053464
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesATXN2L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974792
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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