A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8754



Internal ID15188424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100252337..100297292hg38UCSC Ensembl
OuterchrX:99507335..99552290hg19UCSC Ensembl
OuterchrX:99393991..99438946hg18UCSC Ensembl
OuterchrX:99313480..99358435hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg3844956
hg1944956
hg1844956
hg1744956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7007
Supporting Variants
SamplesNA12156
Known GenesPCDH19
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)nssv8754
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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