A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2215701



Internal ID17805693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187414313..187417166hg38UCSC Ensembl
Innerchr2:188279040..188281893hg19UCSC Ensembl
Innerchr2:187987285..187990138hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382854
hg192854
hg182854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979157
Supporting Variants
SamplesHGDP00778
Known GenesCALCRL
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)nssv2215701
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