A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960082



Internal ID18595335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30502987..30503989hg38UCSC Ensembl
Innerchr17:28830005..28831007hg19UCSC Ensembl
Innerchr17:25854131..25855133hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381003
hg191003
hg181003
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2088931, nssv2088929, nssv2088930, nssv2088927, nssv2088926, nssv2088932, nssv2088928, nssv2088934, nssv2088935, nssv2088933
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGOSR1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960082
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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