A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2402



Internal ID15546965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8712895..8825285hg38UCSC Ensembl
Outerchr19:8823242..8935961hg19UCSC Ensembl
Outerchr19:8684242..8796961hg18UCSC Ensembl
Outerchr19:8684242..8796961hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38112391
hg19112720
hg18112720
hg17112720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6769, nssv10989, nssv2207, nssv2208, nssv1433, nssv5722
SamplesNA12156, NA15510, NA18555, NA19240, NA19129
Known GenesOR2Z1, ZNF558
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)nsv2402
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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