A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508566



Internal ID15824593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5214873..5279391hg38UCSC Ensembl
Outerchr10:5256836..5321354hg19UCSC Ensembl
Outerchr10:5246836..5311354hg18UCSC Ensembl
Outerchr10:5246836..5311354hg17UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3864519
hg1964519
hg1864519
hg1764519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620172, nssv618939, nssv617375
SamplesCHM, NA15510, NA10860
Known GenesAKR1C4
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)nsv508566
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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