A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv899937



Internal ID15847207
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 StatusS
Merged Variantsnsv579870
Supporting Variants
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)nssv899937
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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