A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592014



Internal ID16379423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149550714..149552183hg38UCSC Ensembl
Innerchr3:149268501..149269970hg19UCSC Ensembl
Innerchr3:150751191..150752660hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381470
hg191470
hg181470
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8645n54
Supporting Variantsnssv976538, nssv976544, nssv976550, nssv976532, nssv976530, nssv976535, nssv976541, nssv976531, nssv976533, nssv976547, nssv976536, nssv976537, nssv976543, nssv976539, nssv976540, nssv976542, nssv976548, nssv976534, nssv976546, nssv976545, nssv976529, nssv976549
Samples
Known GenesWWTR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592014
Frequency
Sample Size17421
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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