A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977887



Internal ID19229770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:16045577..16048377hg38UCSC Ensembl
OuterchrX:16063700..16066500hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382801
hg192801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125081
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977887
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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