A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv468635



Internal ID15040816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143364530..143374799hg38UCSC Ensembl
Innerchr4:144285683..144295952hg19UCSC Ensembl
Innerchr4:144505133..144515402hg18UCSC Ensembl
Innerchr4:144863310..144873579hg16UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3810270
hg1910270
hg1810270
hg1610270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv437941
Supporting Variants
SamplesNA19202
Known GenesGAB1
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)nssv468635
Frequency
Sample Size269
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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