A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2128149



Internal ID17770197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:113626..153376hg38UCSC Ensembl
Innerchr19:113626..153376hg19UCSC Ensembl
Innerchr19:64626..104376hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3839751
hg1939751
hg1839751
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978757
Supporting Variants
SamplesHGDP00542
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2128149
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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