A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694169



Internal ID15430821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:50010452..50013729hg38UCSC Ensembl
Innerchr18:47536822..47540099hg19UCSC Ensembl
Innerchr18:45790820..45794097hg18UCSC Ensembl
Innerchr18:45790820..45794097hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383278
hg193278
hg183278
hg173278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517830
Supporting Variants
Samples
Known GenesMYO5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694169
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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