A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066324



Internal ID18808855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55754298..55789134hg38UCSC Ensembl
Innerchr19:56265664..56300500hg19UCSC Ensembl
Innerchr19:60957476..60992312hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3834837
hg1934837
hg1834837
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570435, nssv3570436
Samples
Known GenesNLRP11, 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)nsv1066324
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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