A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952385



Internal ID16954572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80460101..80493300hg38UCSC Ensembl
Outerchr17:78433901..78467100hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3833200
hg1933200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998818
SamplesBILGI_BIOE
Known GenesNPTX1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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