A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977894



Internal ID19234899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42644348..42656648hg38UCSC Ensembl
OuterchrX:42503600..42515900hg19UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3812301
hg1912301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125089
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977894
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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