A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960041



Internal ID18595294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2304940..2315648hg38UCSC Ensembl
Innerchr17:2208234..2218942hg19UCSC Ensembl
Innerchr17:2154984..2165692hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3810709
hg1910709
hg1810709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2070805, nssv2070803, nssv2070812, nssv2070807, nssv2070806, nssv2070808, nssv2070804, nssv2070809, nssv2070810, nssv2070811
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960041
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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