A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv992



Internal ID15553013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:33353488..33381064hg38UCSC Ensembl
Outerchr13:33927625..33955201hg19UCSC Ensembl
Outerchr13:32825625..32853201hg18UCSC Ensembl
Outerchr13:32825625..32853201hg17UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg385381
hg195381
hg185381
hg175381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9106
SamplesNA12156
Known GenesSTARD13
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)nsv992
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