A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2341304



Internal ID17501744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165404105..165406063hg38UCSC Ensembl
Innerchr4:166325257..166327215hg19UCSC Ensembl
Innerchr4:166544707..166546665hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg381959
hg191959
hg181959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964109
Supporting Variants
SamplesHGDP01029
Known GenesCPE
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)nssv2341304
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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