A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508821



Internal ID15824847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18859701..18884331hg38UCSC Ensembl
OuterchrY:21021587..21046217hg19UCSC Ensembl
OuterchrY:19480975..19505605hg18UCSC Ensembl
OuterchrY:19409712..19434342hg17UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg384018
hg194018
hg184018
hg174018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623622
SamplesNA18994
Known GenesNCRNA00185
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)nsv508821
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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