A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580354



Internal ID16021077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55994319..56212123hg38UCSC Ensembl
Innerchr19:56505685..56723492hg19UCSC Ensembl
Innerchr19:61197497..61415304hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38217805
hg19217808
hg18217808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901820
Samples
Known GenesGALP, NLRP5, ZNF444, ZNF787, ZSCAN5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580354
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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