A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992653



Internal ID19233556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:149146377..149170987hg38UCSC Ensembl
Outerchr1:144526000..144550600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3824611
hg1924601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141146
Supporting Variants
SamplesKWS2
Known GenesLOC100288142
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992653
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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