A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv641



Internal ID15551316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22895590..22930243hg38UCSC Ensembl
Outerchr12:23048524..23083177hg19UCSC Ensembl
Outerchr12:22939791..22974444hg18UCSC Ensembl
Outerchr12:22939791..22974444hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385371
hg195371
hg185371
hg175371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2878
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)nsv641
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