A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3638



Internal ID15201581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:41285245..41309688hg38UCSC Ensembl
Outerchr22:41681249..41705692hg19UCSC Ensembl
Outerchr22:40011195..40035638hg18UCSC Ensembl
Outerchr22:40005749..40030192hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg386131
hg196131
hg186131
hg176131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7751, nssv4589
SamplesNA12156, NA12878
Known GenesRANGAP1, ZC3H7B
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)nsv3638
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer