A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2176933



Internal ID17822390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74304726..74313780hg38UCSC Ensembl
Innerchr2:74531853..74540907hg19UCSC Ensembl
Innerchr2:74385361..74394415hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg389055
hg199055
hg189055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979026
Supporting Variants
SamplesHGDP00927
Known GenesSLC4A5
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)nssv2176933
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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