A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977412



Internal ID18892780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53455961..53461261hg38UCSC Ensembl
Outerchr20:52072500..52077800hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115602
Supporting Variants
SamplesKWS2
Known GenesTSHZ2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977412
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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