A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624375



Internal ID15822948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109546430..110535500hg38UCSC Ensembl
Outerchr2:110304007..111300000hg19UCSC Ensembl
Outerchr2:109661296..110808031hg18UCSC Ensembl
Outerchr2:109661382..110807971hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38989071
hg19995994
hg181146736
hg171146590
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510884
Supporting Variants
SamplesNA18994
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6, RGPD8, SEPT10, SOWAHC
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)nssv624375
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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