A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2526



Internal ID15547089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:50133336..50155745hg38UCSC Ensembl
Outerchr19:50636593..50659002hg19UCSC Ensembl
Outerchr19:55328405..55350814hg18UCSC Ensembl
Outerchr19:55328405..55350814hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3819974
hg1919974
hg1819974
hg1719974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9340, nssv2235, nssv6797, nssv4369, nssv6798, nssv1464, nssv9557
SamplesNA18507, NA12156, NA12878, NA18555, NA18517, NA19240
Known GenesIZUMO2, SNAR-B1, SNAR-B2, SNAR-D
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)nsv2526
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer