A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997139



Internal ID16943405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43454030..43457429hg38UCSC Ensembl
Outerchr1:43919701..43923100hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950702
Supporting Variants
SamplesBILGI_BIOE
Known GenesSZT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997139
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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