A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684



Internal ID15191726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120562688..120582673hg38UCSC Ensembl
Outerchr8:121574928..121594913hg19UCSC Ensembl
Outerchr8:121644109..121664094hg18UCSC Ensembl
Outerchr8:121644109..121664094hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg385488
hg195488
hg185488
hg175488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367
Supporting Variants
SamplesNA12878
Known GenesSNTB1
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)nssv3684
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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