A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517532



Internal ID15444825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127630362..127647285hg38UCSC Ensembl
Innerchr2:128387937..128404860hg19UCSC Ensembl
Innerchr2:128104407..128121330hg18UCSC Ensembl
Innerchr2:128104167..128121090hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3816924
hg1916924
hg1816924
hg1716924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682230, nssv687153, nssv669115, nssv677696, nssv671056, nssv656888, nssv678435, nssv652932, nssv652285, nssv663443, nssv661841, nssv659427, nssv696373, nssv683284, nssv661517
Samples
Known GenesGPR17, LIMS2, MYO7B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517532
Frequency
Sample Size2026
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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