A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547965



Internal ID15988688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155593361..155718809hg38UCSC Ensembl
Innerchr1:155563152..155688600hg19UCSC Ensembl
Innerchr1:153829776..153955224hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38125449
hg19125449
hg18125449
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv724909
Samples
Known GenesDAP3, MSTO1, MSTO2P, YY1AP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547965
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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