A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438377



Internal ID15388187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:43451738..43468018hg38UCSC Ensembl
Innerchr1:43917409..43933689hg19UCSC Ensembl
Innerchr1:43689996..43706276hg18UCSC Ensembl
Innerchr1:43330703..43346983hg16UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3816281
hg1916281
hg1816281
hg1616281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470518, nssv470629
SamplesNA18853, NA18854
Known GenesHYI, SZT2
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)nsv438377
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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