A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000887



Internal ID17293839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54118768..54124267hg38UCSC Ensembl
OuterchrX:54145201..54150700hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953416
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM120C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000887
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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