A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2134940



Internal ID17404304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14799221..14805194hg38UCSC Ensembl
Innerchr19:14910033..14916006hg19UCSC Ensembl
Innerchr19:14771033..14777006hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg385974
hg195974
hg185974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963011
Supporting Variants
SamplesHGDP00521
Known GenesOR7C1
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)nssv2134940
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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