A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593381



Internal ID16034104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2251253..2262338hg38UCSC Ensembl
Innerchr4:2252980..2264065hg19UCSC Ensembl
Innerchr4:2222778..2233863hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3811086
hg1911086
hg1811086
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8910n54
Supporting Variantsnssv988537
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593381
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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