A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950348



Internal ID16952535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:82359048..82372747hg38UCSC Ensembl
Outerchr4:83280201..83293900hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg3813700
hg1913700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996737
SamplesBILGI_BIOE
Known GenesHNRNPD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950348
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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