A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058384



Internal ID19147603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43004881..43249346hg38UCSC Ensembl
Innerchr19:43509033..43753498hg19UCSC Ensembl
Innerchr19:48200873..48445338hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38244466
hg19244466
hg18244466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3583n100
Supporting Variantsnssv3571739, nssv3571737, nssv3571738
Samples
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058384
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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