A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652166



Internal ID15042132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122850980..122879651hg38UCSC Ensembl
Innerchr12:123335527..123364198hg19UCSC Ensembl
Innerchr12:121901480..121930151hg18UCSC Ensembl
Innerchr12:121860407..121889078hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3828672
hg1928672
hg1828672
hg1728672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517200
Supporting Variants
Samples
Known GenesHIP1R, VPS37B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652166
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer