A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600364



Internal ID16041087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177299634..177432847hg38UCSC Ensembl
Innerchr5:176726635..176859848hg19UCSC Ensembl
Innerchr5:176659241..176792454hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38133214
hg19133214
hg18133214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154726
Samples1780862275_A
Known GenesF12, GRK6, LMAN2, MXD3, NSD1, PFN3, PRELID1, RAB24, RGS14, SLC34A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600364
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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