A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978432



Internal ID19238220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:62577330..62689930hg38UCSC Ensembl
OuterchrX:61796800..61909400hg19UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38112601
hg19112601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115869
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978432
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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