A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2445491



Internal ID17773562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43961815..43997809hg38UCSC Ensembl
Innerchr7:44001414..44037408hg19UCSC Ensembl
Innerchr7:43967939..44003933hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3835995
hg1935995
hg1835995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970471
Supporting Variants
SamplesHGDP00542
Known GenesPOLR2J4
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)nssv2445491
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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