A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3966506



Internal ID18900414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736203..88736525hg38UCSC Ensembl
Outerchr5:88032020..88032342hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1112423
Supporting Variants
SamplesKWS2
Known GenesMEF2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3966506
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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