A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv926



Internal ID15544952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:147755683..147790942hg38UCSC Ensembl
OuterchrX:146837201..146872460hg19UCSC Ensembl
OuterchrX:146644893..146680152hg18UCSC Ensembl
OuterchrX:146542747..146578006hg17UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg3835260
hg1935260
hg1835260
hg1735260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7140
Supporting Variants
SamplesNA19240
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)nssv926
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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