A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952340



Internal ID16954527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50459540..50478639hg38UCSC Ensembl
Outerchr17:48536901..48556000hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3819100
hg1919100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998773
SamplesBILGI_BIOE
Known GenesACSF2, CHAD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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