A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999500



Internal ID17292452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:124003651..124013050hg38UCSC Ensembl
OuterchrX:123137501..123146900hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg389400
hg199400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953694
Supporting Variants
SamplesBILGI_BIOE
Known GenesSTAG2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999500
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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