A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3018195



Internal ID15217695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58576436..58576436hg38UCSC Ensembl
chr17:56653797..56653797hg19UCSC Ensembl
chr17:54008796..54008796hg18UCSC Ensembl
chr17:54008796..54008796hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv477144
Supporting Variants
SamplesNA18517
Known GenesTEX14
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3018195
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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