A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952523



Internal ID17301397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:20388962..20406561hg38UCSC Ensembl
Outerchr13:20963101..20980700hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3817600
hg1917600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998191
SamplesBILGI_BIOE
Known GenesCRYL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952523
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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