A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524461



Internal ID15451754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225116629..225159987hg38UCSC Ensembl
Innerchr1:225304331..225347689hg19UCSC Ensembl
Innerchr1:223370954..223414312hg18UCSC Ensembl
Innerchr1:221611066..221654424hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3843359
hg1943359
hg1843359
hg1743359
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700395
Samples
Known GenesDNAH14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524461
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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