A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983640



Internal ID18897008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85512386..85540009hg38UCSC Ensembl
Outerchr1:85978069..86005692hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3827624
hg1927624
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142063
Supporting Variants
SamplesKWS2
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983640
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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