A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006590



Internal ID19095807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189306976..189553933hg38UCSC Ensembl
Innerchr1:189276107..189523063hg19UCSC Ensembl
Innerchr1:187542730..187789686hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38246958
hg19246957
hg18246957
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv490n100
Supporting Variantsnssv3493036, nssv3491095, nssv3494626
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006590
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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