A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1819



Internal ID15194417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:3637174..3656591hg38UCSC Ensembl
OuterchrX:3555215..3574632hg19UCSC Ensembl
OuterchrX:3565215..3584632hg18UCSC Ensembl
OuterchrX:3548576..3567993hg17UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3810658
hg1910658
hg1810658
hg1710658
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6780
Supporting Variants
SamplesNA18555
Known GenesPRKX
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)nssv1819
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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