A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000322



Internal ID19089539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:163773199..163918955hg38UCSC Ensembl
Innerchr1:163742436..163888192hg19UCSC Ensembl
Innerchr1:162009060..162154816hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38145757
hg19145757
hg18145757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv457n100
Supporting Variantsnssv3502273, nssv3493414
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)nsv1000322
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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