A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv30n21



Internal ID20131751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235198002..235605078hg38UCSC Ensembl
chr1:235361317..235768378hg19UCSC Ensembl
chr1:233427940..233835001hg18UCSC Ensembl
chr1:231687358..232094419hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38407077
hg19407062
hg18407062
hg17407062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv528775, nsv523941
Samples
Known GenesARID4B, B3GALNT2, GGPS1, GNG4, TBCE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv30n21
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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