A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv470719



Internal ID15040359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:55473019..55478080hg38UCSC Ensembl
Innerchr18:53140250..53145311hg19UCSC Ensembl
Innerchr18:51291248..51296309hg18UCSC Ensembl
Innerchr18:51289237..51294298hg16UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385062
hg195062
hg185062
hg165062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv438291
Supporting Variants
SamplesNA19116
Known GenesTCF4
MethodSNP array
AnalysisNull genotypes - for each genotype assay and population sample we defined the null genotype pattern of that assay as the binary vector (length 90) of null genotype calls across the 90 individuals.
PlatformNot reported
Comments
ReferenceMcCarroll_et_al_2006
Pubmed ID16468122
Accession Number(s)nssv470719
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