A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000657



Internal ID18743188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235445295..235531886hg38UCSC Ensembl
Innerchr1:235608610..235695186hg19UCSC Ensembl
Innerchr1:233675233..233761809hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3886592
hg1986577
hg1886577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv587n100
Supporting Variantsnssv3705532, nssv3705531
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)nsv1000657
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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