A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2833



Internal ID15195045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:68637870..68672343hg38UCSC Ensembl
OuterchrX:67857712..67892185hg19UCSC Ensembl
OuterchrX:67774437..67808910hg18UCSC Ensembl
OuterchrX:67640733..67675206hg17UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg385545
hg195545
hg185545
hg175545
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6943
Supporting Variants
SamplesNA18555
Known GenesSTARD8
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)nssv2833
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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