A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974750



Internal ID18263273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3840807..3841403hg38UCSC Ensembl
Innerchr16:3890808..3891404hg19UCSC Ensembl
Innerchr16:3830809..3831405hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38597
hg19597
hg18597
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2042105, nssv2042103, nssv2042111, nssv2042106, nssv2042107, nssv2042109, nssv2042110, nssv2042104, nssv2042108, nssv2042102
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCREBBP
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974750
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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