A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762930



Internal ID18961845
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 StatusS
Merged Variantsnsv1073903
Supporting Variants
SamplesKWP1
Known GenesMEF2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762930
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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