A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593386



Internal ID16380795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2257730..2262338hg38UCSC Ensembl
Innerchr4:2259457..2264065hg19UCSC Ensembl
Innerchr4:2229255..2233863hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg384609
hg194609
hg184609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8912n54
Supporting Variantsnssv988542
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593386
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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