A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620957



Internal ID15820308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:123113267..123143859hg38UCSC Ensembl
OuterchrX:122247120..122277712hg19UCSC Ensembl
OuterchrX:122074801..122105393hg18UCSC Ensembl
OuterchrX:121972655..122003247hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383642
hg193642
hg183642
hg173642
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508796
Supporting Variants
SamplesNA15510
Known Genes
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)nssv620957
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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