A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977919



Internal ID19233054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:102872872..102879772hg38UCSC Ensembl
OuterchrX:102127800..102134700hg19UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg386901
hg196901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125114
Supporting Variants
SamplesKWS2
Known GenesLINC00630
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977919
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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