A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149689



Internal ID19201323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54118566..54124567hg38UCSC Ensembl
OuterchrX:54144999..54151000hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg386002
hg196002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000991
SamplesKWB1
Known GenesFAM120C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149689
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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