A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3787



Internal ID15548431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:44006249..44040707hg38UCSC Ensembl
Outerchr3:44047741..44082199hg19UCSC Ensembl
Outerchr3:44022745..44057203hg18UCSC Ensembl
Outerchr3:44022745..44057203hg17UCSC Ensembl
Cytoband3p21.33
Allele length
AssemblyAllele length
hg385562
hg195562
hg185562
hg175562
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3093
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)nsv3787
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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