A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2938



Internal ID15547501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134180892..134245803hg38UCSC Ensembl
Outerchr2:134938463..135003374hg19UCSC Ensembl
Outerchr2:134654933..134719844hg18UCSC Ensembl
Outerchr2:134772195..134837106hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3864912
hg1964912
hg1864912
hg1764912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10239, nssv6872, nssv2295, nssv4462
SamplesNA12156, NA12878, NA18956, NA18555
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)nsv2938
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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