A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438176



Internal ID15387987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57331575..57339917hg38UCSC Ensembl
Innerchr10:59091335..59099677hg19UCSC Ensembl
Innerchr10:58761341..58769683hg18UCSC Ensembl
Innerchr10:58435938..58444280hg16UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg388343
hg198343
hg188343
hg168343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470295, nssv470301, nssv470300, nssv470298, nssv470299, nssv470304, nssv470303, nssv470302
SamplesNA12717, NA07029, NA12248, NA10835, NA06993, NA12707, NA06991, NA07000
Known Genes
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)nsv438176
Frequency
Sample Size269
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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