A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953898



Internal ID16956085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42113083..42131582hg38UCSC Ensembl
Outerchr17:40265101..40283600hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3818500
hg1918500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998744
SamplesBILGI_BIOE
Known GenesHSPB9, KAT2A, RAB5C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953898
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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