A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702317



Internal ID15092283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:66147526..66152320hg38UCSC Ensembl
Innerchr12:66541306..66546100hg19UCSC Ensembl
Innerchr12:64827573..64832367hg18UCSC Ensembl
Innerchr12:64827573..64832367hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg384795
hg194795
hg184795
hg174795
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526076
Supporting Variants
Samples
Known GenesTMBIM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702317
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