A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2171271



Internal ID17407180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47161317..47163042hg38UCSC Ensembl
Innerchr2:47388456..47390181hg19UCSC Ensembl
Innerchr2:47241960..47243685hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381726
hg191726
hg181726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961406
Supporting Variants
SamplesHGDP00521
Known GenesCALM2
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)nssv2171271
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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