A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623693



Internal ID15475580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28527837..28632895hg38UCSC Ensembl
Outerchr16:28539158..28644216hg19UCSC Ensembl
Outerchr16:28446659..28551717hg18UCSC Ensembl
Outerchr16:28446659..28551717hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3818047
hg1918047
hg1818047
hg1718047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509608
Supporting Variants
SamplesNA18994
Known GenesCCDC101, NUPR1, SULT1A1, SULT1A2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv623693
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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