A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574349



Internal ID16015072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10320967..10392180hg38UCSC Ensembl
Innerchr17:10224284..10295497hg19UCSC Ensembl
Innerchr17:10165009..10236222hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3871214
hg1971214
hg1871214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866767
Samples
Known GenesMYH13, MYH8
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574349
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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