A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv738848



Internal ID15686118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713782..236714968hg38UCSC Ensembl
Innerchr1:236877082..236878268hg19UCSC Ensembl
Innerchr1:234943705..234944891hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381187
hg191187
hg181187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv549410
Supporting Variants
Samples
Known GenesACTN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv738848
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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