A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2327130



Internal ID17405412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86913299..86923872hg38UCSC Ensembl
Innerchr4:87834452..87845024hg19UCSC Ensembl
Innerchr4:88053476..88064048hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg3810574
hg1910573
hg1810573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980228
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2327130
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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