A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249785



Internal ID21310135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40335373..40351444hg38UCSC Ensembl
Outerchr5:40333830..40357561hg38UCSC Ensembl
Innerchr5:40335475..40351546hg19UCSC Ensembl
Outerchr5:40333932..40357663hg19UCSC Ensembl
Innerchr5:40371232..40387303hg18UCSC Ensembl
Outerchr5:40369689..40393420hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3823732
hg1923732
hg1823732
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169952
Supporting Variants
SamplesNGO_55
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249785
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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