A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001499



Internal ID19191981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127361116..127366617hg38UCSC Ensembl
OuterchrX:126495099..126500600hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg385502
hg195502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147990
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001499
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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