A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960101



Internal ID18595354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:40437815..40441017hg38UCSC Ensembl
Innerchr17:38594067..38597269hg19UCSC Ensembl
Innerchr17:35847593..35850795hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383203
hg193203
hg183203
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2096339, nssv2096334, nssv2096336, nssv2096333, nssv2096335, nssv2096338, nssv2096337, nssv2096340, nssv2096331, nssv2096332
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960101
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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