A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470206



Internal ID15038783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:109652018..109730612hg38UCSC Ensembl
InnerchrX:108895247..108973841hg19UCSC Ensembl
InnerchrX:108781903..108860497hg18UCSC Ensembl
InnerchrX:107659218..107737812hg16UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3878595
hg1978595
hg1878595
hg1678595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438149
Supporting Variants
SamplesNA18501
Known GenesACSL4
MethodSNP array
AnalysisMendelian inconsistencies - for each genotype assay and population sample we defined the Mendel failure pattern of that assay as the binary vector (length 60) of Mendel consistency status across the 60 parent-offspring pair.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470206
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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