A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7381



Internal ID15536483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:40036408..40070655hg38UCSC Ensembl
Outerchr18:37616372..37650619hg19UCSC Ensembl
Outerchr18:35870370..35904617hg18UCSC Ensembl
Outerchr18:35870370..35904617hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg385192
hg195192
hg185192
hg175192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2263
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)nssv7381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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