A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987562



Internal ID19224052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:58518367..58528667hg38UCSC Ensembl
OuterchrX:58544800..58555100hg19UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3810301
hg1910301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132772
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987562
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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