A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508820



Internal ID15824846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:6361085..6484270hg38UCSC Ensembl
OuterchrY:6229126..6352311hg19UCSC Ensembl
OuterchrY:6289126..6412311hg18UCSC Ensembl
OuterchrY:6272487..6395672hg17UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg389538
hg199538
hg189538
hg179538
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623621
SamplesNA18994
Known GenesTTTY1, TTTY1B, TTTY2, TTTY21, TTTY21B, TTTY2B, TTTY7, TTTY7B, TTTY8, TTTY8B
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)nsv508820
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer