A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962345



Internal ID18597589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56949978..56952914hg38UCSC Ensembl
Innerchr17:55027339..55030275hg19UCSC Ensembl
Innerchr17:52382338..52385274hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg382937
hg192937
hg182937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103716, nssv2103712, nssv2103715, nssv2103710, nssv2103718, nssv2103714, nssv2103711, nssv2103717, nssv2103713, nssv2103709
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOIL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962345
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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