A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698439



Internal ID15088405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201419020..201420171hg38UCSC Ensembl
Innerchr1:201388148..201389299hg19UCSC Ensembl
Innerchr1:199654771..199655922hg18UCSC Ensembl
Innerchr1:198119805..198120956hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381152
hg191152
hg181152
hg171152
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522795
Supporting Variants
Samples
Known GenesTNNI1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698439
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