A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491332



Internal ID19078973
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 StatusS
Merged Variantsnsv1006880
Supporting Variants
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)nssv3491332
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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