A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594821



Internal ID16382230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:89950410..90041735hg38UCSC Ensembl
Innerchr4:90871561..90962886hg19UCSC Ensembl
Innerchr4:91090584..91181909hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3891326
hg1991326
hg1891326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002827
Samples
Known GenesMMRN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594821
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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