A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978440



Internal ID18613645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:56938300..56938990hg38UCSC Ensembl
Innerchr17:55015661..55016351hg19UCSC Ensembl
Innerchr17:52370660..52371350hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38691
hg19691
hg18691
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2103621, nssv2103620, nssv2103615, nssv2103612, nssv2103617, nssv2103616, nssv2103614, nssv2103613, nssv2103618, nssv2103619
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCOIL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978440
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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