A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977417



Internal ID19244947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9185867..9189167hg38UCSC Ensembl
Outerchr21:10024700..10028000hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115607
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977417
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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