A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2789



Internal ID15541779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61209402..61243446hg38UCSC Ensembl
Outerchr8:62121961..62156005hg19UCSC Ensembl
Outerchr8:62284515..62318559hg18UCSC Ensembl
Outerchr8:62284515..62318559hg17UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg385968
hg195968
hg185968
hg175968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6220
Supporting Variants
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)nssv2789
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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