A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2318475



Internal ID17750154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49016379..49016969hg38UCSC Ensembl
Innerchr4:49018396..49018986hg19UCSC Ensembl
Innerchr4:48713153..48713743hg18UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38591
hg19591
hg18591
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967743
Supporting Variants
SamplesHGDP00521
Known GenesCWH43
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)nssv2318475
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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