A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv438037



Internal ID15041268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152107513..152111563hg38UCSC Ensembl
Innerchr1:152079989..152084039hg19UCSC Ensembl
Innerchr1:150346613..150350663hg18UCSC Ensembl
Innerchr1:149296571..149300621hg16UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg384051
hg194051
hg184051
hg164051
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv468252, nssv468241
SamplesNA12707, NA12716
Known GenesTCHH
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)nsv438037
Frequency
Sample Size269
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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