A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2433



Internal ID15200310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18721254..18763602hg38UCSC Ensembl
Outerchr19:18832064..18874412hg19UCSC Ensembl
Outerchr19:18693064..18735412hg18UCSC Ensembl
Outerchr19:18693064..18735412hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg387341
hg197341
hg187341
hg177341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5732, nssv6774
SamplesNA12156, NA19129
Known GenesCRTC1
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)nsv2433
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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