A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058122



Internal ID18800653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55808050..55846760hg38UCSC Ensembl
Innerchr19:56319416..56358126hg19UCSC Ensembl
Innerchr19:61011228..61049938hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3838711
hg1938711
hg1838711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570437
Samples
Known GenesNLRP11, NLRP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058122
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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