A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5998



Internal ID15204177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148306067..148338356hg38UCSC Ensembl
Outerchr7:148003159..148035448hg19UCSC Ensembl
Outerchr7:147634092..147666381hg18UCSC Ensembl
Outerchr7:147440807..147473096hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg387254
hg197254
hg187254
hg177254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694
SamplesNA19240
Known GenesCNTNAP2, MIR548T
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)nsv5998
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