A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618638



Internal ID15469758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248403259..248416970hg38UCSC Ensembl
Outerchr1:248566560..248580271hg19UCSC Ensembl
Outerchr1:246633183..246646894hg18UCSC Ensembl
Outerchr1:244892601..244906312hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3813712
hg1913712
hg1813712
hg1713712
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511035
Supporting Variants
SamplesCHM
Known GenesOR2T1
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)nssv618638
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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