A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006880



Internal ID18749411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233572564..233618731hg38UCSC Ensembl
Innerchr1:233708310..233754477hg19UCSC Ensembl
Innerchr1:231774933..231821100hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3846168
hg1946168
hg1846168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n100
Supporting Variantsnssv3491332
Samples
Known GenesKCNK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006880
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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