A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123486



Internal ID19257665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:39884443..39884539hg38UCSC Ensembl
Outerchr20:38513085..38513181hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972929, nssv3986040
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123486
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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