A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622572



Internal ID15821145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33083723..33145236hg38UCSC Ensembl
Outerchr7:33123335..33184848hg19UCSC Ensembl
Outerchr7:33089860..33151373hg18UCSC Ensembl
Outerchr7:32896575..32958088hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3861514
hg1961514
hg1861514
hg1761514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508450
Supporting Variants
SamplesNA18994
Known GenesBBS9, RP9
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)nssv622572
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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