A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998727



Internal ID16944993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36109408..36166220hg38UCSC Ensembl
Outerchr17:34436801..34493600hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3856813
hg1956800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953881
Supporting Variants
SamplesBILGI_BIOE
Known GenesTBC1D3B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998727
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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