A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590695



Internal ID16378104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75408707..75512190hg38UCSC Ensembl
Innerchr3:75457858..75561341hg19UCSC Ensembl
Innerchr3:75540548..75644031hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38103484
hg19103484
hg18103484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8384n54
Supporting Variantsnssv965764, nssv965767, nssv965769, nssv965765, nssv965768, nssv965770, nssv965766
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590695
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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