A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012106



Internal ID18754642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235354090..235401802hg38UCSC Ensembl
Innerchr1:235517405..235565117hg19UCSC Ensembl
Innerchr1:233584028..233631740hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3847713
hg1947713
hg1847713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3492295
Samples
Known GenesTBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012106
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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