A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003187



Internal ID19187842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:48404657..48413755hg38UCSC Ensembl
OuterchrX:48264099..48273200hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg389099
hg199102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153914
Supporting Variants
SamplesKWB1
Known GenesSSX4, SSX4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003187
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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