A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517377



Internal ID15444670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122876930..122898598hg38UCSC Ensembl
Innerchr3:122595777..122617445hg19UCSC Ensembl
Innerchr3:124078467..124100135hg18UCSC Ensembl
Innerchr3:124078467..124100135hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3821669
hg1921669
hg1821669
hg1721669
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691424, nssv651847, nssv669776, nssv701957, nssv655038
Samples
Known GenesDIRC2, LOC100129550
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517377
Frequency
Sample Size2026
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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