A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132760



Internal ID19267110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46654865..46661165hg38UCSC Ensembl
OuterchrX:46514300..46520600hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4235n106
Supporting Variantsnssv3987550
SamplesKWS1
Known GenesSLC9A7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132760
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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