A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv955301



Internal ID17304174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241798286..241823377hg38UCSC Ensembl
Outerchr2:242737701..242765500hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3825092
hg1927800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001321
SamplesBILGI_BIOE
Known GenesGAL3ST2, NEU4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv955301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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