A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003920



Internal ID18845507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54814366..54822767hg38UCSC Ensembl
OuterchrX:54840799..54849200hg19UCSC Ensembl
CytobandXp11.21
Allele length
AssemblyAllele length
hg388402
hg198402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151356
Supporting Variants
SamplesKWB1
Known GenesMAGED2, SNORA11
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003920
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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