A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960069



Internal ID18595322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18618747..18626664hg38UCSC Ensembl
Innerchr17:18522060..18529977hg19UCSC Ensembl
Innerchr17:18462785..18470702hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387918
hg197918
hg187918
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2081307, nssv2081302, nssv2081300, nssv2081309, nssv2081306, nssv2081305, nssv2081308, nssv2081301, nssv2081304, nssv2081303
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCCDC144B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960069
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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