A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312840



Internal ID17836967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:19813741..19816026hg38UCSC Ensembl
Innerchr4:19815364..19817649hg19UCSC Ensembl
Innerchr4:19424462..19426747hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg382286
hg192286
hg182286
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967730
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)nssv2312840
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer