A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2158899



Internal ID17387972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54973856..54974712hg38UCSC Ensembl
Innerchr19:55485224..55486080hg19UCSC Ensembl
Innerchr19:60177036..60177892hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38857
hg19857
hg18857
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963082
Supporting Variants
SamplesHGDP00456
Known GenesNLRP2
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)nssv2158899
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer