A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510756



Internal ID15478252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14926456..14952143hg38UCSC Ensembl
Outerchr19:15037268..15062955hg19UCSC Ensembl
Outerchr19:14898268..14923955hg18UCSC Ensembl
Outerchr19:14898268..14923955hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3825688
hg1925688
hg1825688
hg1725688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622743, nssv617435
SamplesCHM, NA18994
Known GenesOR7C2, SLC1A6
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)nsv510756
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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