A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998867



Internal ID18811717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248574134..248930177hg38UCSC Ensembl
Innerchr1:248737435..249224376hg19UCSC Ensembl
Innerchr1:246804058..247190999hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38356044
hg19486942
hg18386942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv631n100
Supporting Variantsnssv3499534
Samples
Known GenesLYPD8, MIR3124, OR14I1, OR2T10, OR2T11, OR2T27, OR2T34, OR2T35, PGBD2, SH3BP5L, ZNF672, ZNF692
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv998867
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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