A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140419



Internal ID19252565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:108771357..108771423hg38UCSC Ensembl
Outerchr1:109313979..109314045hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993576, nssv3961438
SamplesKWS2, KWS1
Known GenesSTXBP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140419
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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