A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590252



Internal ID16030975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50140578..50287241hg38UCSC Ensembl
Innerchr3:50178011..50324672hg19UCSC Ensembl
Innerchr3:50153015..50299676hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38146664
hg19146662
hg18146662
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8316n54
Supporting Variantsnssv1151771, nssv1151770
SamplesNINDS_49, NINDS_201
Known GenesGNAI2, GNAT1, LSMEM2, MIR5787, MIR6872, SEMA3B, SEMA3F, SLC38A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590252
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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