A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978429



Internal ID19238047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:58478367..58555567hg38UCSC Ensembl
OuterchrX:58504800..58582000hg19UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg3877201
hg1977201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115866
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978429
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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