A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055500



Internal ID19144719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43038667..43092807hg38UCSC Ensembl
Innerchr19:43542819..43596959hg19UCSC Ensembl
Innerchr19:48234659..48288799hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3854141
hg1954141
hg1854141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3586n100
Supporting Variantsnssv3571762, nssv3723053
Samples
Known GenesPSG2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055500
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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