A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992651



Internal ID19231397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8862966..8871297hg38UCSC Ensembl
Outerchr1:143219100..143229300hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388332
hg1910201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141144
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992651
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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