A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978387



Internal ID19227363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102777572..102786972hg38UCSC Ensembl
OuterchrX:102032500..102041900hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg389401
hg199401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140051
Supporting Variants
SamplesKWS2
Known GenesLINC00630
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978387
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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