A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14247516



Internal ID21311135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161114181..161122691hg38UCSC Ensembl
Outerchr5:161112752..161125519hg38UCSC Ensembl
Innerchr5:160541188..160549698hg19UCSC Ensembl
Outerchr5:160539759..160552526hg19UCSC Ensembl
Innerchr5:160473766..160482276hg18UCSC Ensembl
Outerchr5:160472337..160485104hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3812768
hg1912768
hg1812768
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170107
Supporting Variants
SamplesPML_3
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14247516
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer