A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123451



Internal ID19285026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6091314..6091378hg38UCSC Ensembl
Outerchr20:6071961..6072025hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973211
SamplesKWS2
Known GenesFERMT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123451
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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