A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057383



Internal ID18799914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55699665..55944662hg38UCSC Ensembl
Innerchr19:56211031..56456028hg19UCSC Ensembl
Innerchr19:60902843..61147840hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38244998
hg19244998
hg18244998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570432
Samples
Known GenesNLRP11, NLRP13, NLRP4, NLRP9, RFPL4A, RFPL4AL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057383
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