A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv626390



Internal ID15503237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236755369..236757354hg38UCSC Ensembl
Outerchr1:236918669..236920654hg19UCSC Ensembl
Outerchr1:234985292..234987277hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381986
hg191986
hg181986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511744
Supporting Variants
Samples1
Known GenesACTN2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv626390
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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