A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510525



Internal ID15826551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:12577066..12583066hg38UCSC Ensembl
OuterchrX:12595185..12601185hg19UCSC Ensembl
OuterchrX:12505106..12511106hg18UCSC Ensembl
OuterchrX:12354842..12360842hg17UCSC Ensembl
CytobandXp22.2
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 Variantsnssv622187, nssv618470
SamplesCHM, NA10860
Known GenesFRMPD4
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)nsv510525
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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