A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508304



Internal ID15824331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:75373087..75391741hg38UCSC Ensembl
Outerchr1:75838772..75857426hg19UCSC Ensembl
Outerchr1:75611360..75630014hg18UCSC Ensembl
Outerchr1:75550793..75569447hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3818655
hg1918655
hg1818655
hg1718655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622767, nssv617481, nssv618973, nssv620134
SamplesCHM, NA15510, NA18994, NA10860
Known GenesSLC44A5
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)nsv508304
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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