A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621657



Internal ID15474319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:160661367..160698809hg38UCSC Ensembl
Outerchr1:160631157..160668599hg19UCSC Ensembl
Outerchr1:158897781..158935223hg18UCSC Ensembl
Outerchr1:157444230..157481672hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3837443
hg1937443
hg1837443
hg1737443
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511001
Supporting Variants
SamplesNA15510
Known GenesCD48
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)nssv621657
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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