A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622627



Internal ID15821200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:35080362..35099256hg38UCSC Ensembl
OuterchrX:35098479..35117373hg19UCSC Ensembl
OuterchrX:35008400..35027294hg18UCSC Ensembl
OuterchrX:34858136..34877030hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3818895
hg1918895
hg1818895
hg1718895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510826
Supporting Variants
SamplesNA18994
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)nssv622627
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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