A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069752



Internal ID18974308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49377264..49379697hg38UCSC Ensembl
chr13:49951400..49953833hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382434
hg192434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770364
SamplesKWP1
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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