A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952088



Internal ID16954275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:213980058..213991157hg38UCSC Ensembl
Outerchr1:214153401..214164500hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000207
SamplesBILGI_BIOE
Known GenesPROX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952088
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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