A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468252



Internal ID15038309
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 StatusS
Merged Variantsnsv438037
Supporting Variants
SamplesNA12707
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)nssv468252
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer