A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6973



Internal ID15551936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81262860..81297214hg38UCSC Ensembl
OuterchrX:80518359..80552713hg19UCSC Ensembl
OuterchrX:80405015..80439369hg18UCSC Ensembl
OuterchrX:80324504..80358858hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg385754
hg195754
hg185754
hg175754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv888
SamplesNA19240
Known GenesSH3BGRL
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)nsv6973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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