A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070583



Internal ID19316997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36232582..36232734hg38UCSC Ensembl
chr13:36806719..36806871hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772175
SamplesKWP1
Known GenesCCDC169, CCDC169-SOHLH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070583
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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