A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618817



Internal ID15818621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:91438761..91498272hg38UCSC Ensembl
Outerchr7:91068076..91127587hg19UCSC Ensembl
Outerchr7:90906012..90965523hg18UCSC Ensembl
Outerchr7:90712727..90772238hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3859512
hg1959512
hg1859512
hg1759512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508467
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)nssv618817
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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