A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960076



Internal ID18595329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:20707499..20786320hg38UCSC Ensembl
Innerchr17:20610812..20689633hg19UCSC Ensembl
Innerchr17:20551404..20630225hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3878822
hg1978822
hg1878822
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2085046, nssv2085049, nssv2085044, nssv2085048, nssv2085045, nssv2085041, nssv2085047, nssv2085043, nssv2085050, nssv2085042
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC100287072
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960076
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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