A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518819



Internal ID15099426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:158931337..158933462hg38UCSC Ensembl
Innerchr1:158901127..158903252hg19UCSC Ensembl
Innerchr1:157167751..157169876hg18UCSC Ensembl
Innerchr1:155714200..155716325hg17UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382126
hg192126
hg182126
hg172126
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696272
Samples
Known GenesPYHIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518819
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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