A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009454



Internal ID18751985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:164718217..164771665hg38UCSC Ensembl
Innerchr2:165574727..165628175hg19UCSC Ensembl
Innerchr2:165282973..165336421hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3853449
hg1953449
hg1853449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582997
Samples
Known GenesCOBLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009454
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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