A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2101072



Internal ID17838247
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 StatusS
Merged Variantsnsv978436
Supporting Variants
SamplesHGDP00998
Known GenesB4GALNT2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2101072
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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