A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619997



Internal ID15819354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:97756056..97777852hg38UCSC Ensembl
Outerchr7:97385368..97407164hg19UCSC Ensembl
Outerchr7:97223304..97245100hg18UCSC Ensembl
Outerchr7:97030019..97051815hg17UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3821797
hg1921797
hg1821797
hg1721797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508473
Supporting Variants
SamplesNA15510
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)nssv619997
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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