A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024973



Internal ID19114191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65683455..65793538hg38UCSC Ensembl
Innerchr6:66393348..66503431hg19UCSC Ensembl
Innerchr6:66450069..66560152hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38110084
hg19110084
hg18110084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657680
Samples
Known GenesEYS, SLC25A51P1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024973
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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