A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2329320



Internal ID17831337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:99899892..99900982hg38UCSC Ensembl
Innerchr4:100821049..100822139hg19UCSC Ensembl
Innerchr4:101040072..101041162hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg381091
hg191091
hg181091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967775
Supporting Variants
SamplesHGDP00998
Known GenesDNAJB14
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)nssv2329320
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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