A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960529



Internal ID18249094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75338814..75340160hg38UCSC Ensembl
Innerchr17:73334895..73336241hg19UCSC Ensembl
Innerchr17:70846490..70847836hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381347
hg191347
hg181347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2110010, nssv2110015, nssv2110011, nssv2110007, nssv2110009, nssv2110006, nssv2110013, nssv2110014, nssv2110008, nssv2110012
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGRB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960529
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer