A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608456



Internal ID16049179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:134447203..134473068hg38UCSC Ensembl
Innerchr7:134131955..134157820hg19UCSC Ensembl
Innerchr7:133782495..133808360hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3825866
hg1925866
hg1825866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1094783, nssv1094782
Samples
Known GenesAKR1B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608456
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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