A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623684



Internal ID15822257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8056155..8100538hg38UCSC Ensembl
Outerchr16:8106157..8150540hg19UCSC Ensembl
Outerchr16:8046158..8090541hg18UCSC Ensembl
Outerchr16:8046158..8090541hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg382810
hg192810
hg182810
hg172810
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509595
Supporting Variants
SamplesNA18994
Known Genes
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)nssv623684
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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