A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073903



Internal ID18977993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88736230..88736522hg38UCSC Ensembl
chr5:88032047..88032339hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762930
SamplesKWP1
Known GenesMEF2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073903
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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