A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978436



Internal ID18613641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49147763..49152712hg38UCSC Ensembl
Innerchr17:47225125..47230074hg19UCSC Ensembl
Innerchr17:44580124..44585073hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg384950
hg194950
hg184950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2101071, nssv2101077, nssv2101069, nssv2101076, nssv2101078, nssv2101073, nssv2101072, nssv2101074, nssv2101075, nssv2101070
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesB4GALNT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978436
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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