A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701430



Internal ID15091396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91770491..91772610hg38UCSC Ensembl
Innerchr1:92236048..92238167hg19UCSC Ensembl
Innerchr1:92008636..92010755hg18UCSC Ensembl
Innerchr1:91948069..91950188hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg382120
hg192120
hg182120
hg172120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525320
Supporting Variants
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701430
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