A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125135



Internal ID19256315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150417526..150421126hg38UCSC Ensembl
OuterchrX:149585800..149589400hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4317n106
Supporting Variantsnssv3977941
SamplesKWS2
Known GenesMAMLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125135
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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