A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000878



Internal ID17293830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:36465618..36470617hg38UCSC Ensembl
OuterchrX:36483701..36488700hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953406
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000878
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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