A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956493



Internal ID16958680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:78278354..78278650hg38UCSC Ensembl
Outerchr5:77574178..77574474hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002129
SamplesBILGI_BIOE
Known GenesAP3B1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956493
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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