A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508763



Internal ID8791704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:41415959..41531609hg38UCSC Ensembl
OuterchrX:41275212..41390862hg19UCSC Ensembl
OuterchrX:41160156..41275806hg18UCSC Ensembl
OuterchrX:41031466..41147116hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg383176
hg193176
hg183176
hg173176
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619585, nssv620943
SamplesNA15510, NA10860
Known GenesCASK, NYX
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)nsv508763
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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