A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960109



Internal ID18595362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42751124..42756189hg38UCSC Ensembl
Innerchr17:40903142..40908207hg19UCSC Ensembl
Innerchr17:38156668..38161733hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385066
hg195066
hg185066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2098380, nssv2098376, nssv2098383, nssv2098379, nssv2098377, nssv2098375, nssv2098381, nssv2098374, nssv2098378, nssv2098382
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRAMP2-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960109
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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