A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705693



Internal ID15095659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91725977..91732605hg38UCSC Ensembl
Innerchr1:92191534..92198162hg19UCSC Ensembl
Innerchr1:91964122..91970750hg18UCSC Ensembl
Innerchr1:91903555..91910183hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386629
hg196629
hg186629
hg176629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528991
Supporting Variants
Samples
Known GenesTGFBR3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705693
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