A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7074



Internal ID15552047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:125199865..125245022hg38UCSC Ensembl
OuterchrX:124333714..124378871hg19UCSC Ensembl
OuterchrX:124161395..124206552hg18UCSC Ensembl
OuterchrX:124059249..124104406hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3845158
hg1945158
hg1845158
hg1745158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8777
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)nsv7074
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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