A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510538



Internal ID15478036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:56559791..56565791hg38UCSC Ensembl
OuterchrX:56586224..56592224hg19UCSC Ensembl
OuterchrX:56602949..56608949hg18UCSC Ensembl
OuterchrX:56469245..56475245hg17UCSC Ensembl
CytobandXp11.1
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 Variantsnssv618475, nssv624097
SamplesCHM, NA18994
Known GenesUBQLN2
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)nsv510538
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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