A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949754



Internal ID16951941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1636674..1640173hg38UCSC Ensembl
Outerchr4:1638401..1641900hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996626
SamplesBILGI_BIOE
Known GenesFAM53A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949754
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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