A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2041



Internal ID15199918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38353353..38386215hg38UCSC Ensembl
Outerchr17:36509236..36542036hg19UCSC Ensembl
Outerchr17:33762762..33795562hg18UCSC Ensembl
Outerchr17:33762762..33795562hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386942
hg196942
hg186942
hg176942
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4262
SamplesNA12878
Known GenesSOCS7
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)nsv2041
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