A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv949757



Internal ID16951944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2056974..2082173hg38UCSC Ensembl
Outerchr4:2058701..2083900hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3825200
hg1925200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996629
SamplesBILGI_BIOE
Known GenesNAT8L, POLN
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv949757
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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