A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7400



Internal ID15536464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51238642..51283391hg38UCSC Ensembl
Outerchr18:48765012..48809761hg19UCSC Ensembl
Outerchr18:47019010..47063759hg18UCSC Ensembl
Outerchr18:47019010..47063759hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3844750
hg1944750
hg1844750
hg1744750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2304
Supporting Variants
SamplesNA12156
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)nssv7400
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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