A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508893



Internal ID15476391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237614816..237665091hg38UCSC Ensembl
Outerchr2:238523459..238573734hg19UCSC Ensembl
Outerchr2:238188198..238238473hg18UCSC Ensembl
Outerchr2:238305459..238355734hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383561
hg193561
hg183561
hg173561
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619304, nssv621190
SamplesNA15510, NA10860
Known GenesLRRFIP1
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)nsv508893
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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