A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5248



Internal ID15543784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:112589089..112622879hg38UCSC Ensembl
OuterchrX:111832317..111866107hg19UCSC Ensembl
OuterchrX:111718973..111752763hg18UCSC Ensembl
OuterchrX:111638462..111672252hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385494
hg195494
hg185494
hg175494
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7042
Supporting Variants
SamplesNA19129
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)nssv5248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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