A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008246



Internal ID18750777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:46542172..46604173hg38UCSC Ensembl
Innerchr1:47007844..47069845hg19UCSC Ensembl
Innerchr1:46780431..46842432hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3862002
hg1962002
hg1862002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3463717, nssv3463957, nssv3700654
Samples
Known GenesKNCN, MKNK1, MKNK1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008246
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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