A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008348



Internal ID19097566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160596338..160641354hg38UCSC Ensembl
Innerchr2:161452849..161497865hg19UCSC Ensembl
Innerchr2:161161095..161206111hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3845017
hg1945017
hg1845017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582991
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008348
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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