A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519961



Internal ID15100568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237723104..237726494hg38UCSC Ensembl
Innerchr2:238631747..238635137hg19UCSC Ensembl
Innerchr2:238296486..238299876hg18UCSC Ensembl
Innerchr2:238413747..238417137hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383391
hg193391
hg183391
hg173391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659687, nssv678535
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519961
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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