A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694442



Internal ID15084408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:156624864..156645402hg38UCSC Ensembl
Innerchr1:156594656..156615194hg19UCSC Ensembl
Innerchr1:154861280..154881818hg18UCSC Ensembl
Innerchr1:153407729..153428267hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg3820539
hg1920539
hg1820539
hg1720539
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521401
Supporting Variants
Samples
Known GenesBCAN, HAPLN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694442
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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