A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140029



Internal ID19253036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:54118867..54124567hg38UCSC Ensembl
OuterchrX:54145300..54151000hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4241n106
Supporting Variantsnssv3978365
SamplesKWS2
Known GenesFAM120C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140029
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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