A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001957



Internal ID18744488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235445295..235525726hg38UCSC Ensembl
Innerchr1:235608610..235689027hg19UCSC Ensembl
Innerchr1:233675233..233755650hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3880432
hg1980418
hg1880418
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587n100
Supporting Variantsnssv3483221
Samples
Known GenesB3GALNT2, TBCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001957
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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