A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2169070



Internal ID17766923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42529839..42533426hg38UCSC Ensembl
Innerchr2:42756979..42760566hg19UCSC Ensembl
Innerchr2:42610483..42614070hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383588
hg193588
hg183588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961770
Supporting Variants
SamplesHGDP00542
Known GenesMTA3
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)nssv2169070
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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