A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438268



Internal ID15041498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27164848..27172523hg38UCSC Ensembl
Innerchr15:27409995..27417670hg19UCSC Ensembl
Innerchr15:24992741..25000416hg18UCSC Ensembl
Innerchr15:24972760..24980435hg16UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg387676
hg197676
hg187676
hg167676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv470659, nssv470660
SamplesNA12056, NA10851
Known GenesGABRG3
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)nsv438268
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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