A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2171602



Internal ID17732252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:48912826..48915582hg38UCSC Ensembl
Innerchr2:49139965..49142721hg19UCSC Ensembl
Innerchr2:48993469..48996225hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382757
hg192757
hg182757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961772
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2171602
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