A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2181920



Internal ID17798311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87009889..87049399hg38UCSC Ensembl
Innerchr2:87237012..87276522hg19UCSC Ensembl
Innerchr2:87090523..87130033hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3839511
hg1939511
hg1839511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv979034
Supporting Variants
SamplesHGDP00778
Known GenesLOC285074, PLGLB1, PLGLB2, RGPD1, RGPD2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2181920
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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