A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3813



Internal ID15538540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:101801182..101803093hg38UCSC Ensembl
OuterchrX:101056155..101058066hg19UCSC Ensembl
OuterchrX:100942811..100944722hg18UCSC Ensembl
OuterchrX:100862300..100864211hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3812481
hg1912481
hg1812481
hg1712481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7014
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3813
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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