A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625998



Internal ID15502845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:94713634..94714902hg38UCSC Ensembl
Outerchr8:94709024..94720538hg38UCSC Ensembl
Innerchr8:95725862..95727130hg19UCSC Ensembl
Outerchr8:95721252..95732766hg19UCSC Ensembl
Innerchr8:95795038..95796306hg18UCSC Ensembl
Outerchr8:95790428..95801942hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3811515
hg1911515
hg1811515
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511392
Supporting Variants
Samples1
Known GenesDPY19L4
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625998
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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