A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4209



Internal ID15538936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30518635..30552821hg38UCSC Ensembl
Outerchr16:30529956..30564142hg19UCSC Ensembl
Outerchr16:30437457..30471643hg18UCSC Ensembl
Outerchr16:30437457..30471643hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385552
hg195552
hg185552
hg175552
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1784
Supporting Variants
SamplesNA12878
Known GenesITGAL, ZNF747, ZNF768
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)nssv4209
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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