A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062682



Internal ID19151901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46929089..46959260hg38UCSC Ensembl
Innerchr18:44509052..44539223hg19UCSC Ensembl
Innerchr18:42763050..42793221hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3830172
hg1930172
hg1830172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3346n100
Supporting Variantsnssv3565391, nssv3565390
Samples
Known GenesKATNAL2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062682
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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