A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003117



Internal ID19192443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:50019690..50024391hg38UCSC Ensembl
OuterchrX:49784299..49789000hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151696
Supporting Variants
SamplesKWB1
Known GenesCLCN5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003117
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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