A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3721



Internal ID15201673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179050736..179094159hg38UCSC Ensembl
Outerchr1:179019871..179063294hg19UCSC Ensembl
Outerchr1:177286494..177329917hg18UCSC Ensembl
Outerchr1:175751528..175794951hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385448
hg195448
hg185448
hg175448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4852, nssv7865
SamplesNA19129, NA12156
Known GenesFAM20B, TOR3A
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)nsv3721
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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