A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7127



Internal ID15552105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:142767889..142801677hg38UCSC Ensembl
OuterchrX:141855675..141889463hg19UCSC Ensembl
OuterchrX:141683341..141717129hg18UCSC Ensembl
OuterchrX:141581195..141614983hg17UCSC Ensembl
CytobandXq27.2
Allele length
AssemblyAllele length
hg385646
hg195646
hg185646
hg175646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8795
SamplesNA12156
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)nsv7127
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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