A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv644



Internal ID15551349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41541484..41574987hg38UCSC Ensembl
Outerchr1:42007155..42040658hg19UCSC Ensembl
Outerchr1:41779742..41813245hg18UCSC Ensembl
Outerchr1:41676248..41709751hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg385928
hg195928
hg185928
hg175928
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9073
SamplesNA12156
Known GenesHIVEP3
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)nsv644
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