A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526708



Internal ID15454001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225042164..225085546hg38UCSC Ensembl
Innerchr1:225229866..225273248hg19UCSC Ensembl
Innerchr1:223296489..223339871hg18UCSC Ensembl
Innerchr1:221536601..221579983hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3843383
hg1943383
hg1843383
hg1743383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703047
Samples
Known GenesDNAH14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526708
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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