A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508773



Internal ID15476272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53034408..53141410hg38UCSC Ensembl
OuterchrX:53063590..53170592hg19UCSC Ensembl
OuterchrX:53080315..53187317hg18UCSC Ensembl
OuterchrX:52946611..53053613hg17UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385717
hg195717
hg185717
hg175717
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623587
SamplesNA18994
Known GenesGPR173, TSPYL2
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)nsv508773
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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