A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003221



Internal ID19189268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241566700..241567948hg38UCSC Ensembl
Outerchr2:242506115..242507363hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153946
Supporting Variants
SamplesKWB1
Known GenesBOK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003221
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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