A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7141



Internal ID15205435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147917258..147962137hg38UCSC Ensembl
OuterchrX:146998776..147043657hg19UCSC Ensembl
OuterchrX:146806468..146851349hg18UCSC Ensembl
OuterchrX:146704322..146749203hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3844880
hg1944882
hg1844882
hg1744882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8802
SamplesNA12156
Known GenesFMR1, FMR1-AS1
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)nsv7141
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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