A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438098



Internal ID15041329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:23769756..23775451hg38UCSC Ensembl
Innerchr9:23769754..23775449hg19UCSC Ensembl
Innerchr9:23759754..23765449hg18UCSC Ensembl
Innerchr9:23759754..23765449hg16UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg385696
hg195696
hg185696
hg165696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470083, nssv470085, nssv470084, nssv470087
SamplesNA19144, NA07029, NA19145, NA06994
Known GenesELAVL2
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)nsv438098
Frequency
Sample Size269
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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