A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622425



Internal ID15817650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148769522..148797873hg38UCSC Ensembl
Outerchr1:145086492..145119005hg19UCSC Ensembl
Outerchr1:143797849..143830362hg18UCSC Ensembl
Outerchr1:142575536..142608049hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3828352
hg1932514
hg1832514
hg1732514
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510962
Supporting Variants
SamplesNA10860
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
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)nssv622425
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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