A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027005



Internal ID19116224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:20986757..21118928hg38UCSC Ensembl
Innerchr6:20986988..21119159hg19UCSC Ensembl
Innerchr6:21094967..21227138hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38132172
hg19132172
hg18132172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3749042
Samples
Known GenesCDKAL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027005
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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