A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508573



Internal ID15480249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:21168076..21236717hg38UCSC Ensembl
Outerchr10:21457005..21525646hg19UCSC Ensembl
Outerchr10:21497011..21565652hg18UCSC Ensembl
Outerchr10:21497011..21565652hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg3868642
hg1968642
hg1868642
hg1768642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622534
SamplesNA18994
Known GenesNEBL, NEBL-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)nsv508573
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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