A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14248403



Internal ID21309837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:71303076..71304364hg38UCSC Ensembl
Outerchr8:71300130..71307628hg38UCSC Ensembl
Innerchr8:72215311..72216599hg19UCSC Ensembl
Outerchr8:72212365..72219863hg19UCSC Ensembl
Innerchr8:72377865..72379153hg18UCSC Ensembl
Outerchr8:72374919..72382417hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg387499
hg197499
hg187499
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170009
Supporting Variants
SamplesNGO_53
Known GenesEYA1
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14248403
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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