A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963



Internal ID15204139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137877442..137911305hg38UCSC Ensembl
Outerchr7:137562188..137596051hg19UCSC Ensembl
Outerchr7:137212728..137246591hg18UCSC Ensembl
Outerchr7:137019443..137053306hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg385575
hg195575
hg185575
hg175575
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8434
SamplesNA12156
Known GenesCREB3L2
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)nsv5963
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