A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977953



Internal ID18613158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29466968..29482470hg38UCSC Ensembl
Innerchr16:29478289..29493791hg19UCSC Ensembl
Innerchr16:29385790..29401292hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3815503
hg1915503
hg1815503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2054714, nssv2054713, nssv2054716, nssv2054715, nssv2054709, nssv2054717, nssv2054711, nssv2054712, nssv2054710, nssv2054718
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC388242, LOC613038
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977953
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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