A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2072615



Internal ID17751426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1361008..1362654hg38UCSC Ensembl
Innerchr17:1264302..1265948hg19UCSC Ensembl
Innerchr17:1211052..1212698hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962244
Supporting Variants
SamplesHGDP00521
Known GenesYWHAE
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)nssv2072615
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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