A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2129270



Internal ID17541630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7665883..7670744hg38UCSC Ensembl
Innerchr19:7730769..7735630hg19UCSC Ensembl
Innerchr19:7636769..7641630hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384862
hg194862
hg184862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960780
Supporting Variants
SamplesHGDP01307
Known GenesRETN
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)nssv2129270
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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