A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066972



Internal ID18809503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54946627..55013206hg38UCSC Ensembl
Innerchr19:55457995..55524574hg19UCSC Ensembl
Innerchr19:60149807..60216386hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3866580
hg1966580
hg1866580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3679n100
Supporting Variantsnssv3570423
Samples
Known GenesNLRP2, NLRP7, RNU6-35P, RNU6-64P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066972
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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