A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001227



Internal ID18847185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:44942596..44942673hg38UCSC Ensembl
OuterchrX:44801841..44801918hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153309
Supporting Variants
SamplesKWB1
Known GenesKDM6A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001227
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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