A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010085



Internal ID19099304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194998206..195024992hg38UCSC Ensembl
Innerchr2:195862930..195889716hg19UCSC Ensembl
Innerchr2:195571175..195597961hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3826787
hg1926787
hg1826787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4148n100
Supporting Variantsnssv3583979, nssv3583980
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)nsv1010085
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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