A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv866762



Internal ID15814032
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 StatusS
Merged Variantsnsv574342
Supporting Variants
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)nssv866762
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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