A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8779



Internal ID15535085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:129276481..129309552hg38UCSC Ensembl
OuterchrX:128410458..128443529hg19UCSC Ensembl
OuterchrX:128238139..128271210hg18UCSC Ensembl
OuterchrX:128135993..128169064hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386368
hg196368
hg186368
hg176368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7085
Supporting Variants
SamplesNA12156
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)nssv8779
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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