A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952187



Internal ID16954374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152107125..152113624hg38UCSC Ensembl
Outerchr1:152079601..152086100hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997322
SamplesBILGI_BIOE
Known GenesTCHH
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952187
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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