A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437970



Internal ID15387781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10315121..10318358hg38UCSC Ensembl
Innerchr1:10375179..10378416hg19UCSC Ensembl
Innerchr1:10297766..10301003hg18UCSC Ensembl
Innerchr1:10084725..10087962hg16UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383238
hg193238
hg183238
hg163238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467741, nssv467852, nssv471534, nssv467963, nssv468185, nssv468074
SamplesNA18502, NA19130, NA18912, NA19132, NA18914, NA18500
Known GenesKIF1B
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)nsv437970
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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