A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312937



Internal ID17837157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:20031656..20037795hg38UCSC Ensembl
Innerchr4:20033279..20039418hg19UCSC Ensembl
Innerchr4:19642377..19648516hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg386140
hg196140
hg186140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967731
Supporting Variants
SamplesHGDP00998
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)nssv2312937
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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