A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002451



Internal ID18744983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197056937..197092153hg38UCSC Ensembl
Innerchr3:196783808..196819024hg19UCSC Ensembl
Innerchr3:198268205..198303421hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3835217
hg1935217
hg1835217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5037n100
Supporting Variantsnssv3617005
Samples
Known GenesDLG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002451
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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