A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011723



Internal ID18754257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237988669..238037969hg38UCSC Ensembl
Innerchr2:238897311..238946610hg19UCSC Ensembl
Innerchr2:238562050..238611349hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3849301
hg1949300
hg1849300
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586959
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1011723
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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