A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978404



Internal ID18613609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30550273..30579418hg38UCSC Ensembl
Innerchr17:28877291..28906436hg19UCSC Ensembl
Innerchr17:25901417..25930562hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3829146
hg1929146
hg1829146
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2089028, nssv2089032, nssv2089024, nssv2089027, nssv2089031, nssv2089030, nssv2089029, nssv2089025, nssv2089023, nssv2089026
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37BP1, TBC1D29
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978404
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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