A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115598



Internal ID19253549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:24514064..24517064hg38UCSC Ensembl
Outerchr20:24494700..24497700hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg383001
hg193001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977408
SamplesKWS2
Known GenesSYNDIG1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115598
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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