A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063449



Internal ID19152668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43003881..43230246hg38UCSC Ensembl
Innerchr19:43508033..43734398hg19UCSC Ensembl
Innerchr19:48199873..48426238hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38226366
hg19226366
hg18226366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3583n100
Supporting Variantsnssv3571694, nssv3571691, nssv3571693, nssv3571692
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)nsv1063449
Frequency
Sample Size11257
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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