A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11123



Internal ID15192770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31957962..32028944hg38UCSC Ensembl
Outerchr6:31925739..31996721hg19UCSC Ensembl
Outerchr6:32033718..32104699hg18UCSC Ensembl
Outerchr6:32033718..32104699hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3870983
hg1970983
hg1870982
hg1770982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5247
Supporting Variants
SamplesNA15510
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, DXO, NELFE, SKIV2L, STK19, TNXA, TNXB
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)nssv11123
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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