A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1878



Internal ID15541161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:149218230..149248830hg38UCSC Ensembl
OuterchrX:148299760..148330360hg19UCSC Ensembl
OuterchrX:148107430..148138061hg18UCSC Ensembl
OuterchrX:148005284..148035915hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg389394
hg199394
hg189394
hg179394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7146
Supporting Variants
SamplesNA18555
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)nssv1878
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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