A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1415



Internal ID15544294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53896950..53911070hg38UCSC Ensembl
Outerchr18:51423320..51437440hg19UCSC Ensembl
Outerchr18:49677318..49691438hg18UCSC Ensembl
Outerchr18:49677318..49691438hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg387491
hg197491
hg187491
hg177491
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2312
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)nssv1415
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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