A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2213296



Internal ID17833107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:181961041..181962461hg38UCSC Ensembl
Innerchr2:182825768..182827188hg19UCSC Ensembl
Innerchr2:182534013..182535433hg18UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg381421
hg191421
hg181421
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963753
Supporting Variants
SamplesHGDP00998
Known GenesPPP1R1C
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)nssv2213296
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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