A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528322



Internal ID15108929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:171609392..171643127hg38UCSC Ensembl
Innerchr1:171578532..171612267hg19UCSC Ensembl
Innerchr1:169845155..169878890hg18UCSC Ensembl
Innerchr1:168310189..168343924hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3833736
hg1933736
hg1833736
hg1733736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704903
Samples
Known GenesMYOC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528322
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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