A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508782



Internal ID15824809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:72991152..73028444hg38UCSC Ensembl
OuterchrX:72210991..72248283hg19UCSC Ensembl
OuterchrX:72127716..72165008hg18UCSC Ensembl
OuterchrX:71994012..72031304hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385936
hg195936
hg185936
hg175936
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618148
SamplesCHM
Known GenesPABPC1L2B
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)nsv508782
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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