A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030983



Internal ID19120204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120908007..121030339hg38UCSC Ensembl
Innerchr5:120243702..120366034hg19UCSC Ensembl
Innerchr5:120271601..120393933hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38122333
hg19122333
hg18122333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647998
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)nsv1030983
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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