A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510771



Internal ID15478267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51600464..51650095hg38UCSC Ensembl
Outerchr19:52103717..52153348hg19UCSC Ensembl
Outerchr19:56795529..56845160hg18UCSC Ensembl
Outerchr19:56795529..56845160hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3849632
hg1949632
hg1849632
hg1749632
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622754, nssv620121
SamplesNA15510, NA18994
Known GenesSIGLEC14, SIGLEC5
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)nsv510771
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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