A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696272



Internal ID15086238
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518819
Supporting Variants
Samples
Known GenesPYHIN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696272
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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