A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3704



Internal ID15191746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:208059489..208083952hg38UCSC Ensembl
Outerchr1:208232834..208257297hg19UCSC Ensembl
Outerchr1:206299457..206323920hg18UCSC Ensembl
Outerchr1:204621229..204645692hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386070
hg196070
hg186070
hg176070
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4276
Supporting Variants
SamplesNA12878
Known GenesPLXNA2
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)nssv3704
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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