A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691632



Internal ID15428284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4532247..4633549hg38UCSC Ensembl
Innerchr4:4533974..4635276hg19UCSC Ensembl
Innerchr4:4584875..4686177hg18UCSC Ensembl
Innerchr4:4652046..4753348hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38101303
hg19101303
hg18101303
hg17101303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521279
Supporting Variants
Samples
Known GenesSTX18, STX18-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691632
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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