A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024690



Internal ID18767222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:375290..424025hg38UCSC Ensembl
Innerchr5:375405..424140hg19UCSC Ensembl
Innerchr5:428405..477140hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3848736
hg1948736
hg1848736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5520n100
Supporting Variantsnssv3633218
Samples
Known GenesAHRR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024690
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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