A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6989



Internal ID15551953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:87612773..87646820hg38UCSC Ensembl
OuterchrX:86867776..86901820hg19UCSC Ensembl
OuterchrX:86754432..86788476hg18UCSC Ensembl
OuterchrX:86673921..86707965hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg385390
hg195390
hg185390
hg175390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3808, nssv8748
SamplesNA12156, NA12878
Known GenesKLHL4
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)nsv6989
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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