A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125275



Internal ID18930727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:15564035..15564088hg38UCSC Ensembl
OuterchrX:15582158..15582211hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983446
SamplesKWS2
Known GenesACE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125275
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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