A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1985509



Internal ID17734830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50662994..50665409hg38UCSC Ensembl
Innerchr14:51129712..51132127hg19UCSC Ensembl
Innerchr14:50199462..50201877hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382416
hg192416
hg182416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974336
Supporting Variants
SamplesHGDP00456
Known GenesSAV1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1985509
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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