A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953917



Internal ID17302791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:46975735..46980434hg38UCSC Ensembl
Outerchr17:45053101..45057800hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998763
SamplesBILGI_BIOE
Known GenesRPRML
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953917
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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