A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5231



Internal ID15203334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26643664..26737124hg38UCSC Ensembl
Outerchr6:26643892..26760483hg19UCSC Ensembl
Outerchr6:26751871..26868462hg18UCSC Ensembl
Outerchr6:26751871..26868462hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3893461
hg19116592
hg18116592
hg17116592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535, nssv6056, nssv4898, nssv9889
SamplesNA18507, NA12156, NA19240, NA19129
Known GenesZNF322
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)nsv5231
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