A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977122



Internal ID18265642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:15560886..15567940hg38UCSC Ensembl
Innerchr16:15654743..15661797hg19UCSC Ensembl
Innerchr16:15562244..15569298hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg387055
hg197055
hg187055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2046468, nssv2046474, nssv2046467, nssv2046469, nssv2046473, nssv2046465, nssv2046472, nssv2046471, nssv2046470, nssv2046466
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesC16orf45
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977122
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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