A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv681249



Internal ID15071215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11367487..11422636hg38UCSC Ensembl
Innerchr12:11520421..11575570hg19UCSC Ensembl
Innerchr12:11411688..11466837hg18UCSC Ensembl
Innerchr12:11411688..11466837hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855150
hg1955150
hg1855150
hg1755150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516262
Supporting Variants
Samples
Known GenesPRB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv681249
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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