A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3628



Internal ID15191670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:198503127..198518691hg38UCSC Ensembl
Outerchr1:198472257..198487821hg19UCSC Ensembl
Outerchr1:196738880..196754444hg18UCSC Ensembl
Outerchr1:195203914..195219478hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3811332
hg1911332
hg1811332
hg1711332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4043
Supporting Variants
SamplesNA12878
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)nssv3628
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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