A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249999



Internal ID21312871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12385006..12412203hg38UCSC Ensembl
Outerchr8:12384646..12418232hg38UCSC Ensembl
Innerchr8:12242515..12269712hg19UCSC Ensembl
Outerchr8:12242155..12275741hg19UCSC Ensembl
Innerchr8:12286886..12314083hg18UCSC Ensembl
Outerchr8:12286526..12320112hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3833587
hg1933587
hg1833587
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170296
Supporting Variants
SamplesSNI_5
Known GenesDEFB109P1, FAM66A, FAM90A25P
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249999
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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