A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978220



Internal ID18266739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30243214..30250999hg38UCSC Ensembl
Innerchr16:30254535..30262320hg19UCSC Ensembl
Innerchr16:30162036..30169821hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg387786
hg197786
hg187786
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2637845, nssv2637849, nssv2637841, nssv2637844, nssv2637850, nssv2637846, nssv2637848, nssv2637842, nssv2637847, nssv2637843
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesLOC613037
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978220
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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