A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508758



Internal ID15824785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:29138061..29163798hg38UCSC Ensembl
OuterchrX:29156178..29181915hg19UCSC Ensembl
OuterchrX:29066099..29091836hg18UCSC Ensembl
OuterchrX:28915835..28941572hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg383411
hg193411
hg183411
hg173411
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619580
SamplesNA10860
Known GenesIL1RAPL1
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)nsv508758
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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