A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5736



Internal ID15550575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:49656462..49706350hg38UCSC Ensembl
Outerchr7:49696058..49745946hg19UCSC Ensembl
Outerchr7:49666604..49716492hg18UCSC Ensembl
Outerchr7:49473319..49523207hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3849889
hg1949889
hg1849889
hg1749889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6124, nssv2647, nssv2648, nssv630, nssv10541, nssv9901, nssv4978, nssv3527
SamplesNA18507, NA12156, NA12878, NA18956, NA18555, NA19240, NA19129
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)nsv5736
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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