A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977949



Internal ID18613154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29256268..29306468hg38UCSC Ensembl
Innerchr16:29267589..29317789hg19UCSC Ensembl
Innerchr16:29175090..29225290hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3850201
hg1950201
hg1850201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054239, nssv2054238, nssv2054241, nssv2054233, nssv2054237, nssv2054234, nssv2054242, nssv2054240, nssv2054235, nssv2054236
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSNX29P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977949
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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