A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526480



Internal ID15453773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:183963325..183969068hg38UCSC Ensembl
Innerchr1:183932459..183938202hg19UCSC Ensembl
Innerchr1:182199082..182204825hg18UCSC Ensembl
Innerchr1:180664116..180669859hg17UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385744
hg195744
hg185744
hg175744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702789
Samples
Known GenesCOLGALT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526480
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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