A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987951



Internal ID19214518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:45580885..45581507hg38UCSC Ensembl
Outerchr1:46046557..46047179hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133130
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987951
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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