A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952116



Internal ID16954303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6636481..6640580hg38UCSC Ensembl
Outerchr17:6539801..6543900hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000235
SamplesBILGI_BIOE
Known GenesKIAA0753
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952116
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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