A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960530



Internal ID18595781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75777547..75779894hg38UCSC Ensembl
Innerchr17:73773628..73775975hg19UCSC Ensembl
Innerchr17:71285223..71287570hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382348
hg192348
hg182348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2110107, nssv2110103, nssv2110111, nssv2110108, nssv2110112, nssv2110106, nssv2110104, nssv2110110, nssv2110109, nssv2110105
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesH3F3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960530
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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