A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977942



Internal ID19228370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:151023827..151027828hg38UCSC Ensembl
OuterchrX:150192300..150196300hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg384002
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125136
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977942
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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