A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4644



Internal ID15543294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:50154438..50197264hg38UCSC Ensembl
Outerchr18:47680808..47723634hg19UCSC Ensembl
Outerchr18:45934806..45977632hg18UCSC Ensembl
Outerchr18:45934806..45977632hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3842827
hg1942827
hg1842827
hg1742827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2297
Supporting Variants
SamplesNA19129
Known GenesMYO5B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv4644
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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