A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv529044



Internal ID15456337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:119092683..119094625hg38UCSC Ensembl
Innerchr12:119530488..119532430hg19UCSC Ensembl
Innerchr12:118014871..118016813hg18UCSC Ensembl
Innerchr12:117993208..117995150hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg381943
hg191943
hg181943
hg171943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705760
Samples
Known GenesSRRM4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv529044
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