A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974816



Internal ID18610025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53327948..53374293hg38UCSC Ensembl
Innerchr16:53361860..53408205hg19UCSC Ensembl
Innerchr16:51919361..51965706hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3846346
hg1946346
hg1846346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2061582, nssv2061581, nssv2061583, nssv2061584, nssv2061585, nssv2061577, nssv2061579, nssv2061580, nssv2061586, nssv2061578
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC643802
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974816
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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