A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527918



Internal ID15108525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:180310575..180474673hg38UCSC Ensembl
Innerchr1:180279710..180443808hg19UCSC Ensembl
Innerchr1:178546333..178710431hg18UCSC Ensembl
Innerchr1:177011367..177175465hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38164099
hg19164099
hg18164099
hg17164099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704424
Samples
Known GenesACBD6, MIR3121
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527918
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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