A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977986



Internal ID18266505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60357016..60360838hg38UCSC Ensembl
Innerchr16:60390920..60394742hg19UCSC Ensembl
Innerchr16:58948421..58952243hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383823
hg193823
hg183823
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2648509, nssv2064317, nssv2648506, nssv2064323, nssv2064325, nssv2064318, nssv2648507, nssv2064322, nssv2064326, nssv2648511, nssv2648510, nssv2064319, nssv2648513, nssv2648514, nssv2064321, nssv2648508, nssv2648512, nssv2064320, nssv2648515, nssv2064324
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC729159
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977986
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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