A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620712



Internal ID15473378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16544379..16550379hg38UCSC Ensembl
Outerchr2:16725647..16731647hg19UCSC Ensembl
Outerchr2:16589128..16595128hg18UCSC Ensembl
Outerchr2:16647275..16653275hg17UCSC Ensembl
Cytoband2p24.2
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 Variantsnsv506999
Supporting Variants
SamplesNA15510
Known GenesFAM49A
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)nssv620712
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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