A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1401



Internal ID15544310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31207113..31241412hg38UCSC Ensembl
Outerchr18:28787076..28821375hg19UCSC Ensembl
Outerchr18:27041074..27075373hg18UCSC Ensembl
Outerchr18:27041074..27075373hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg386701
hg196701
hg186701
hg176701
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2245
Supporting Variants
SamplesNA19240
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)nssv1401
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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