A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978553



Internal ID18267071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46566187..46709215hg38UCSC Ensembl
Innerchr17:44643553..44786581hg19UCSC Ensembl
Innerchr17:41998869..42141764hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38143029
hg19143029
hg18142896
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2757147, nssv2761187, nssv2764239, nssv2758973, nssv2763496, nssv2765116
SamplesHGDP00927, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456
Known GenesARL17A, ARL17B, NSF, NSFP1
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978553
Frequency
Sample Size10
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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