A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2110107



Internal ID17866464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:75777547..75779894hg38UCSC Ensembl
Innerchr17:73773628..73775975hg19UCSC Ensembl
Innerchr17:71285223..71287570hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382348
hg192348
hg182348
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960530
Supporting Variants
SamplesHGDP01284
Known GenesH3F3B
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)nssv2110107
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