A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2664



Internal ID15193758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198505224..198508191hg38UCSC Ensembl
Outerchr1:198474354..198477321hg19UCSC Ensembl
Outerchr1:196740977..196743944hg18UCSC Ensembl
Outerchr1:195206011..195208978hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811080
hg1911080
hg1811080
hg1711080
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4043
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2664
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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