A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv437904



Internal ID15388254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91325319..91335650hg38UCSC Ensembl
Innerchr1:91790876..91801207hg19UCSC Ensembl
Innerchr1:91563464..91573795hg18UCSC Ensembl
Innerchr1:91257677..91268008hg16UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg3810332
hg1910332
hg1810332
hg1610332
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv467742, nssv471634
SamplesNA07029, NA07000
Known GenesHFM1
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)nsv437904
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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