A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960534



Internal ID18595785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77196683..77199493hg38UCSC Ensembl
Innerchr17:75192765..75195575hg19UCSC Ensembl
Innerchr17:72704360..72707170hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg382811
hg192811
hg182811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2111766, nssv2111762, nssv2111765, nssv2111769, nssv2111761, nssv2111768, nssv2111763, nssv2111764, nssv2111770, nssv2111767
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSEC14L1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960534
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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