A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954143



Internal ID16956330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3600781..3600887hg38UCSC Ensembl
Outerchr18:3600779..3600885hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3002798
SamplesBILGI_BIOE
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954143
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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