A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2241



Internal ID15546804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:30130887..30164600hg38UCSC Ensembl
Outerchr18:27710852..27744565hg19UCSC Ensembl
Outerchr18:25964850..25998563hg18UCSC Ensembl
Outerchr18:25964850..25998563hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385728
hg195728
hg185728
hg175728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7376
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)nsv2241
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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