A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998767



Internal ID17291719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48295139..48309038hg38UCSC Ensembl
Outerchr17:46372501..46386400hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3813900
hg1913900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953921
Supporting Variants
SamplesBILGI_BIOE
Known GenesSKAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998767
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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