A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7348



Internal ID15189830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77411282..77444762hg38UCSC Ensembl
Outerchr17:75407364..75440844hg19UCSC Ensembl
Outerchr17:72918959..72952439hg18UCSC Ensembl
Outerchr17:72918959..72952439hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385954
hg195954
hg185954
hg175954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2150
Supporting Variants
SamplesNA12156
Known GenesSEPT9
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)nssv7348
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