A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14240933



Internal ID21303723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12358500..12384304hg38UCSC Ensembl
Outerchr8:12340745..12384467hg38UCSC Ensembl
Innerchr8:12216009..12241813hg19UCSC Ensembl
Outerchr8:12198254..12241976hg19UCSC Ensembl
Innerchr8:12260380..12286184hg18UCSC Ensembl
Outerchr8:12242625..12286347hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3843723
hg1943723
hg1843723
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesMLY_8
Known GenesFAM66A, LOC649352
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14240933
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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