A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579870



Internal ID16020593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45704552..45814335hg38UCSC Ensembl
Innerchr19:46207810..46317593hg19UCSC Ensembl
Innerchr19:50899650..51009433hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38109784
hg19109784
hg18109784
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899937
Samples
Known GenesDMPK, DMWD, FBXO46, LOC388553, RSPH6A, SIX5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579870
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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