A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060269



Internal ID18802800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55708879..55810275hg38UCSC Ensembl
Innerchr19:56220245..56321641hg19UCSC Ensembl
Innerchr19:60912057..61013453hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38101397
hg19101397
hg18101397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570433
Samples
Known GenesNLRP11, 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)nsv1060269
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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