A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974842



Internal ID18263365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:87915039..87922650hg38UCSC Ensembl
Innerchr16:87948645..87956256hg19UCSC Ensembl
Innerchr16:86506146..86513757hg18UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg387612
hg197612
hg187612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2069716, nssv2069715, nssv2069721, nssv2069720, nssv2069719, nssv2069722, nssv2069714, nssv2069718, nssv2069717, nssv2069723
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCA5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974842
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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