A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690230



Internal ID15080196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153783607..153800953hg38UCSC Ensembl
Innerchr1:153756083..153773429hg19UCSC Ensembl
Innerchr1:152022707..152040053hg18UCSC Ensembl
Innerchr1:150569156..150586502hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3817347
hg1917347
hg1817347
hg1717347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515962
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690230
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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