A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2445269



Internal ID17393734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44798810..44802851hg38UCSC Ensembl
Innerchr7:44838409..44842450hg19UCSC Ensembl
Innerchr7:44804934..44808975hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384042
hg194042
hg184042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970472
Supporting Variants
SamplesHGDP00456
Known GenesPPIA
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)nssv2445269
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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