A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525197



Internal ID15452490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46983608..47070834hg38UCSC Ensembl
Innerchr2:47210747..47297973hg19UCSC Ensembl
Innerchr2:47064251..47151477hg18UCSC Ensembl
Innerchr2:47122398..47209624hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3887227
hg1987227
hg1887227
hg1787227
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701278
Samples
Known GenesTTC7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525197
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