A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623106



Internal ID15821679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32719149..32725149hg38UCSC Ensembl
Outerchr12:32872083..32878083hg19UCSC Ensembl
Outerchr12:32763350..32769350hg18UCSC Ensembl
Outerchr12:32763350..32769350hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507639
Supporting Variants
SamplesNA18994
Known GenesDNM1L
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)nssv623106
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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