A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933



Internal ID15198330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150642655..150676998hg38UCSC Ensembl
OuterchrX:149811128..149845471hg19UCSC Ensembl
OuterchrX:149561786..149596129hg18UCSC Ensembl
OuterchrX:149481696..149516039hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386646
hg196646
hg186646
hg176646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7149
Supporting Variants
SamplesNA19240
Known GenesMTM1
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)nssv933
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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