A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6696



Internal ID15537167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:4868208..4888233hg38UCSC Ensembl
Outerchr17:4771503..4791528hg19UCSC Ensembl
Outerchr17:4717703..4732311hg18UCSC Ensembl
Outerchr17:4717703..4732311hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387291
hg197291
hg187291
hg177291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1953
Supporting Variants
SamplesNA12156
Known GenesMINK1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv6696
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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