A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4296



Internal ID15539023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82559925..82594356hg38UCSC Ensembl
Outerchr17:80517801..80552232hg19UCSC Ensembl
Outerchr17:78111090..78145521hg18UCSC Ensembl
Outerchr17:78111090..78145521hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385312
hg195312
hg185312
hg175312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2167
Supporting Variants
SamplesNA12878
Known GenesFOXK2
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)nssv4296
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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