A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24n21



Internal ID20131745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215223200..215228679hg38UCSC Ensembl
chr1:215396543..215402022hg19UCSC Ensembl
chr1:213463166..213468645hg18UCSC Ensembl
chr1:211784938..211790417hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385480
hg195480
hg185480
hg175480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv518732, nsv527715
Samples
Known GenesKCNK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)dgv24n21
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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