A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698732



Internal ID15088698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:100017297..100039015hg38UCSC Ensembl
Innerchr12:100411075..100432793hg19UCSC Ensembl
Innerchr12:98935206..98956924hg18UCSC Ensembl
Innerchr12:98913543..98935261hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821719
hg1921719
hg1821719
hg1721719
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523049
Supporting Variants
Samples
Known GenesUHRF1BP1L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698732
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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