A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955283



Internal ID17304156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:167843891..167846390hg38UCSC Ensembl
Outerchr2:168700401..168702900hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003065
SamplesBILGI_BIOE
Known GenesB3GALT1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955283
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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