A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3810



Internal ID15538537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:90849369..90880832hg38UCSC Ensembl
OuterchrX:90104368..90135831hg19UCSC Ensembl
OuterchrX:89991024..90022487hg18UCSC Ensembl
OuterchrX:89910513..89941976hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg388282
hg198282
hg188282
hg178282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6992
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)nssv3810
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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