A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11227



Internal ID15539352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146966176..146997207hg38UCSC Ensembl
OuterchrX:146047694..146078725hg19UCSC Ensembl
OuterchrX:145855386..145886417hg18UCSC Ensembl
OuterchrX:145753240..145784271hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg388849
hg198849
hg188849
hg178849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7137
Supporting Variants
SamplesNA15510
Known Genes
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)nssv11227
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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