A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974827



Internal ID18610036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69942408..69972156hg38UCSC Ensembl
Innerchr16:69976311..70006059hg19UCSC Ensembl
Innerchr16:68533812..68563560hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3829749
hg1929749
hg1829749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2065850, nssv2065849, nssv2065848, nssv2065852, nssv2065843, nssv2065844, nssv2065851, nssv2065847, nssv2065846, nssv2065845
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCLEC18A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974827
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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