A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950048



Internal ID16952235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68507883..68625382hg38UCSC Ensembl
Outerchr4:69373601..69491100hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117500
hg19117500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996725
SamplesBILGI_BIOE
Known GenesUGT2B17
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950048
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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