A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5258



Internal ID15197027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:120868676..120987346hg38UCSC Ensembl
OuterchrX:120002530..120121200hg19UCSC Ensembl
OuterchrX:119886558..119948881hg18UCSC Ensembl
OuterchrX:119784412..119846735hg17UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38118671
hg19118671
hg1862324
hg1762324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7061
Supporting Variants
SamplesNA19129
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A7, CT47A8, CT47A9, CT47B1
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)nssv5258
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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