A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520744



Internal ID15448037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171876610..171976452hg38UCSC Ensembl
Innerchr4:172797761..172897603hg19UCSC Ensembl
Innerchr4:173034336..173134178hg18UCSC Ensembl
Innerchr4:173172491..173272333hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3899843
hg1999843
hg1899843
hg1799843
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697586
Samples
Known GenesGALNTL6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520744
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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