A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6930



Internal ID15551889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:64388800..64421719hg38UCSC Ensembl
OuterchrX:63608680..63641599hg19UCSC Ensembl
OuterchrX:63525405..63558324hg18UCSC Ensembl
OuterchrX:63391701..63424620hg17UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg387110
hg197110
hg187110
hg177110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1841
SamplesNA18555
Known GenesMTMR8
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)nsv6930
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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