A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056122



Internal ID18798653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43143826..43342230hg38UCSC Ensembl
Innerchr19:43647978..43846382hg19UCSC Ensembl
Innerchr19:48339818..48538222hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38198405
hg19198405
hg18198405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3591n100
Supporting Variantsnssv3723103
Samples
Known GenesLOC284344, PSG4, PSG5, PSG9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056122
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer