A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002245



Internal ID18744777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:243636475..243803925hg38UCSC Ensembl
Innerchr1:243799777..243967227hg19UCSC Ensembl
Innerchr1:241866400..242033850hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38167451
hg19167451
hg18167451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3705562
Samples
Known GenesAKT3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002245
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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