A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438172



Internal ID15041403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46555437..46557260hg38UCSC Ensembl
Innerchr10:46992357..46994180hg19UCSC Ensembl
Innerchr10:46412363..46414186hg18UCSC Ensembl
Innerchr10:46376363..46378186hg16UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381824
hg191824
hg181824
hg161824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470287, nssv470288
SamplesNA19093, NA19094
Known GenesGPRIN2
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)nsv438172
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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