A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv957462



Internal ID16959649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49318547..49318674hg38UCSC Ensembl
Outerchr13:49892683..49892810hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3004342
SamplesBILGI_BIOE
Known GenesCAB39L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv957462
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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