A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438388



Internal ID15041618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61976116..61977574hg38UCSC Ensembl
Innerchr1:62441788..62443246hg19UCSC Ensembl
Innerchr1:62214376..62215834hg18UCSC Ensembl
Innerchr1:61811705..61813163hg16UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381459
hg191459
hg181459
hg161459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470962, nssv470980, nssv470851, nssv470991, nssv471002, nssv470740
SamplesNA19222, NA19203, NA19100, NA19098, NA19221, NA19205
Known GenesINADL
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)nsv438388
Frequency
Sample Size269
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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