A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574342



Internal ID16015065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10090245..10512523hg38UCSC Ensembl
Innerchr17:9993562..10415840hg19UCSC Ensembl
Innerchr17:9934287..10356565hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38422279
hg19422279
hg18422279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5443n54
Supporting Variantsnssv866762, nssv866761
Samples
Known GenesGAS7, MYH1, MYH13, MYH4, MYH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574342
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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