A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003104



Internal ID16949370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202033178..202036677hg38UCSC Ensembl
Outerchr2:202897901..202901400hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954821
Supporting Variants
SamplesBILGI_BIOE
Known GenesFZD7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003104
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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