A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030580



Internal ID19119799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12254662..12364517hg38UCSC Ensembl
Innerchr5:12254774..12364629hg19UCSC Ensembl
Innerchr5:12307774..12417629hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38109856
hg19109856
hg18109856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3748679
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030580
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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