A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981228



Internal ID19209384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6316653..6319853hg38UCSC Ensembl
Outerchr20:6297300..6300500hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg383201
hg193201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118907
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981228
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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