A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057003



Internal ID18799534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47416492..47471403hg38UCSC Ensembl
Innerchr19:47919749..47974660hg19UCSC Ensembl
Innerchr19:52611561..52666472hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3854912
hg1954912
hg1854912
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573807
Samples
Known GenesMEIS3, SLC8A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057003
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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