A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2270



Internal ID15546833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:43722874..43752817hg38UCSC Ensembl
Outerchr18:41302839..41332782hg19UCSC Ensembl
Outerchr18:39556837..39586780hg18UCSC Ensembl
Outerchr18:39556837..39586780hg17UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg386592
hg196592
hg186592
hg176592
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4318, nssv9974, nssv7386, nssv10154
SamplesNA18507, NA12156, NA12878, NA18956
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)nsv2270
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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