A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515986



Internal ID15096593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50066874..50254353hg38UCSC Ensembl
Innerchr3:50104307..50291785hg19UCSC Ensembl
Innerchr3:50079311..50266789hg18UCSC Ensembl
Innerchr3:50079311..50266789hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38187480
hg19187479
hg18187479
hg17187479
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv692007, nssv693535, nssv660839, nssv668457, nssv688961, nssv668681, nssv654501, nssv675178, nssv691334, nssv684806, nssv692155, nssv674002, nssv688454, nssv678278, nssv689099, nssv669281, nssv671238, nssv669120, nssv681722, nssv692838, nssv657967, nssv675316, nssv682405, nssv673852, nssv665591, nssv673905, nssv702204
Samples
Known GenesGNAI2, GNAT1, MIR5787, RBM5, RBM5-AS1, RBM6, SEMA3F, SLC38A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515986
Frequency
Sample Size2026
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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