A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1342



Internal ID15197689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8407652..8412853hg38UCSC Ensembl
Outerchr17:8310970..8316171hg19UCSC Ensembl
Outerchr17:8251695..8256896hg18UCSC Ensembl
Outerchr17:8251695..8256896hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg387123
hg197123
hg187123
hg177123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1968
Supporting Variants
SamplesNA19240
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)nssv1342
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