A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2315



Internal ID15200192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:55179705..55224322hg38UCSC Ensembl
Outerchr18:52846936..52891553hg19UCSC Ensembl
Outerchr18:50997934..51042551hg18UCSC Ensembl
Outerchr18:50997934..51042551hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3844618
hg1944618
hg1844618
hg1744618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7403
SamplesNA12156
Known GenesTCF4
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)nsv2315
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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