A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv665547



Internal ID15402199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50360828..50385628hg38UCSC Ensembl
Innerchr18:47887198..47911998hg19UCSC Ensembl
Innerchr18:46141196..46165996hg18UCSC Ensembl
Innerchr18:46141196..46165996hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3824801
hg1924801
hg1824801
hg1724801
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515672
Supporting Variants
Samples
Known GenesSKA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv665547
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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