A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622570



Internal ID15474457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:6567164..6660896hg38UCSC Ensembl
Outerchr7:6606795..6700527hg19UCSC Ensembl
Outerchr7:6573320..6667052hg18UCSC Ensembl
Outerchr7:6380035..6473767hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3893733
hg1993733
hg1893733
hg1793733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508444
Supporting Variants
SamplesNA18994
Known GenesC7orf26, ZDHHC4, ZNF316, ZNF853
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)nssv622570
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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