A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528775



Internal ID15109382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235198002..235605078hg38UCSC Ensembl
Innerchr1:235361317..235768378hg19UCSC Ensembl
Innerchr1:233427940..233835001hg18UCSC Ensembl
Innerchr1:231687358..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 Variantsdgv30n21
Supporting Variantsnssv705439
Samples
Known GenesARID4B, B3GALNT2, GGPS1, GNG4, TBCE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528775
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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