A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129081



Internal ID18940409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:53051518..53056918hg38UCSC Ensembl
OuterchrX:53080700..53086100hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961754
SamplesKWS1
Known GenesGPR173
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129081
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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