A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11218



Internal ID15539361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:67745544..67777008hg38UCSC Ensembl
OuterchrX:66965386..66996850hg19UCSC Ensembl
OuterchrX:66882111..66913575hg18UCSC Ensembl
OuterchrX:66748407..66779871hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg388412
hg198412
hg188412
hg178412
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6936
Supporting Variants
SamplesNA15510
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)nssv11218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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