A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590253



Internal ID16030976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50158985..50299991hg38UCSC Ensembl
Innerchr3:50196418..50337422hg19UCSC Ensembl
Innerchr3:50171422..50312426hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38141007
hg19141005
hg18141005
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8316n54
Supporting Variantsnssv963019
Samples
Known GenesGNAI2, GNAT1, HYAL1, HYAL3, IFRD2, LSMEM2, MIR5787, MIR6872, NAT6, SEMA3B, SEMA3F, SLC38A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590253
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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