A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998817



Internal ID16945083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:80344901..80356400hg38UCSC Ensembl
Outerchr17:78318701..78330200hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3811500
hg1911500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952384
Supporting Variants
SamplesBILGI_BIOE
Known GenesLOC100294362, RNF213
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998817
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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