A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2128571



Internal ID17540474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1030850..1057112hg38UCSC Ensembl
Innerchr19:1030849..1057111hg19UCSC Ensembl
Innerchr19:981849..1008111hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3826263
hg1926263
hg1826263
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960770
Supporting Variants
SamplesHGDP01307
Known GenesABCA7, CNN2
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)nssv2128571
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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