A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057853



Internal ID19147072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42786621..43026194hg38UCSC Ensembl
Innerchr19:43290773..43530346hg19UCSC Ensembl
Innerchr19:47982613..48222186hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38239574
hg19239574
hg18239574
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3558n100
Supporting Variantsnssv3568970, nssv3568969
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057853
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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