A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5067



Internal ID15549839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150785595..150853767hg38UCSC Ensembl
Outerchr5:150165157..150233329hg19UCSC Ensembl
Outerchr5:150145350..150213522hg18UCSC Ensembl
Outerchr5:150145350..150213522hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3868173
hg1968173
hg1868173
hg1768173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9413, nssv2553, nssv2552, nssv10477, nssv505, nssv4869
SamplesNA18956, NA18555, NA18517, NA19240, NA19129
Known GenesIRGM, SMIM3
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)nsv5067
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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