A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001785



Internal ID17294737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:90298437..90323336hg38UCSC Ensembl
Outerchr2:90450701..90475600hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3824900
hg1924900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955240
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001785
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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