A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508003



Internal ID15824033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:2622888..2628888hg38UCSC Ensembl
OuterchrY:2490929..2496929hg19UCSC Ensembl
OuterchrY:2550929..2556929hg18UCSC Ensembl
OuterchrY:2534290..2540290hg17UCSC Ensembl
CytobandYp11.31
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623099
SamplesNA18994
Known GenesCD99P1
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)nsv508003
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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