A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522987



Internal ID15103594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100267299..100329651hg38UCSC Ensembl
Innerchr1:100732855..100795207hg19UCSC Ensembl
Innerchr1:100505443..100567795hg18UCSC Ensembl
Innerchr1:100444876..100507228hg17UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg3862353
hg1962353
hg1862353
hg1762353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698657
Samples
Known GenesMIR553, RTCA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522987
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer