A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110371



Internal ID19251702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31984797..31987797hg38UCSC Ensembl
Outerchr20:30572600..30575600hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960022
SamplesKWS1
Known GenesXKR7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110371
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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