A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960083



Internal ID18595336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30580325..30637238hg38UCSC Ensembl
Innerchr17:28907343..28964256hg19UCSC Ensembl
Innerchr17:25931469..25988382hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3856914
hg1956914
hg1856914
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2089921, nssv2089915, nssv2089916, nssv2089917, nssv2089919, nssv2089912, nssv2089914, nssv2089918, nssv2089913, nssv2089920
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37BP1, SH3GL1P2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960083
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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