A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2743



Internal ID15541829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161940654..161975142hg38UCSC Ensembl
Outerchr6:162361686..162396174hg19UCSC Ensembl
Outerchr6:162281676..162316164hg18UCSC Ensembl
Outerchr6:162332097..162366585hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg385539
hg195539
hg185539
hg175539
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5579
Supporting Variants
SamplesNA18555
Known GenesPARK2
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)nssv2743
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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