A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618809



Internal ID15818613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:50896083..50962742hg38UCSC Ensembl
Outerchr7:50963780..51030439hg19UCSC Ensembl
Outerchr7:50931274..50997933hg18UCSC Ensembl
Outerchr7:50737989..50804648hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg3866660
hg1966660
hg1866660
hg1766660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508453
Supporting Variants
SamplesNA10860
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)nssv618809
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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