A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064275



Internal ID18806806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38369225..38422611hg38UCSC Ensembl
Innerchr19:38859865..38913251hg19UCSC Ensembl
Innerchr19:43551705..43605091hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3853387
hg1953387
hg1853387
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3568197
Samples
Known GenesCATSPERG, FAM98C, GGN, PSMD8, RASGRP4, SPRED3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064275
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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