A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622452



Internal ID15474339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11015092..11076380hg38UCSC Ensembl
Outerchr3:11056778..11118066hg19UCSC Ensembl
Outerchr3:11031778..11093066hg18UCSC Ensembl
Outerchr3:11031778..11093066hg17UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3861289
hg1961289
hg1861289
hg1761289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508209
Supporting Variants
SamplesNA18994
Known GenesSLC6A1, SLC6A1-AS1
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)nssv622452
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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