A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4327



Internal ID15539054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54422477..54467904hg38UCSC Ensembl
Outerchr18:51948847..51994274hg19UCSC Ensembl
Outerchr18:50202845..50248272hg18UCSC Ensembl
Outerchr18:50202845..50248272hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3845428
hg1945428
hg1845428
hg1745428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2313
Supporting Variants
SamplesNA12878
Known Genes
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)nssv4327
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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