A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000079



Internal ID18742610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:172177795..172261405hg38UCSC Ensembl
Innerchr1:172146935..172230545hg19UCSC Ensembl
Innerchr1:170413558..170497168hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3883611
hg1983611
hg1883611
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3704818
Samples
Known GenesDNM3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000079
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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