A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978166



Internal ID18266685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71848777..71852115hg38UCSC Ensembl
Innerchr16:71882680..71886018hg19UCSC Ensembl
Innerchr16:70440181..70443519hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg383339
hg193339
hg183339
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2067168, nssv2067167, nssv2067169, nssv2067163, nssv2067162, nssv2067160, nssv2067161, nssv2067164, nssv2067166, nssv2067165
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesATXN1L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978166
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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