A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960970



Internal ID19208508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:121742252..121743636hg38UCSC Ensembl
Outerchr1:121484050..121485434hg19UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120196
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960970
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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