A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974591



Internal ID18263116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:66499279..66503530hg38UCSC Ensembl
Innerchr15:66791617..66795868hg19UCSC Ensembl
Innerchr15:64578671..64582922hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg384252
hg194252
hg184252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2028710, nssv2028711, nssv2028713, nssv2028707, nssv2028712, nssv2028708, nssv2028715, nssv2028716, nssv2028714, nssv2028709
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL4, SNORD16, SNORD18A, SNORD18B, SNORD18C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974591
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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