A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508263



Internal ID15479939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186836479..186924939hg38UCSC Ensembl
Outerchr3:186554268..186642728hg19UCSC Ensembl
Outerchr3:188036962..188125422hg18UCSC Ensembl
Outerchr3:188036970..188125430hg17UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg3888461
hg1988461
hg1888461
hg1788461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617483, nssv619928, nssv618731
SamplesCHM, NA15510, NA10860
Known GenesADIPOQ, ADIPOQ-AS1
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)nsv508263
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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