A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000244



Internal ID17293196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8343283..8344682hg38UCSC Ensembl
Outerchr17:8246601..8248000hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953827
Supporting Variants
SamplesBILGI_BIOE
Known GenesODF4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000244
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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