A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509825



Internal ID15825851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:56105440..56111440hg38UCSC Ensembl
Outerchr3:56139468..56145468hg19UCSC Ensembl
Outerchr3:56114508..56120508hg18UCSC Ensembl
Outerchr3:56114508..56120508hg17UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622026, nssv618572
SamplesCHM, NA10860
Known GenesERC2
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)nsv509825
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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