A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7129



Internal ID15552107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:143461597..143530750hg38UCSC Ensembl
OuterchrX:142549379..142618587hg19UCSC Ensembl
OuterchrX:142377045..142446253hg18UCSC Ensembl
OuterchrX:142274899..142344107hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3869154
hg1969209
hg1869209
hg1769209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv922, nssv8796
SamplesNA12156, NA19240
Known GenesSPANXN3
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)nsv7129
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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