A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700140



Internal ID15090106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93846635..93852580hg38UCSC Ensembl
Innerchr12:94240411..94246356hg19UCSC Ensembl
Innerchr12:92764542..92770487hg18UCSC Ensembl
Innerchr12:92742879..92748824hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385946
hg195946
hg185946
hg175946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524248
Supporting Variants
Samples
Known GenesCRADD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700140
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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