A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523474



Internal ID15104081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:74233415..74328435hg38UCSC Ensembl
Innerchr1:74699099..74794119hg19UCSC Ensembl
Innerchr1:74471687..74566707hg18UCSC Ensembl
Innerchr1:74411120..74506140hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3895021
hg1995021
hg1895021
hg1795021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699235
Samples
Known GenesFPGT-TNNI3K, TNNI3K
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523474
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