A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976349



Internal ID19245977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:146759137..146759251hg38UCSC Ensembl
OuterchrX:145840655..145840769hg19UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115299
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976349
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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