A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468230



Internal ID15039490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151346257..151372227hg38UCSC Ensembl
Innerchr1:151318733..151344703hg19UCSC Ensembl
Innerchr1:149585357..149611327hg18UCSC Ensembl
Innerchr1:148535315..148561285hg16UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3825971
hg1925971
hg1825971
hg1625971
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438026
Supporting Variants
SamplesNA18854
Known GenesRFX5, SELENBP1
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)nssv468230
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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