A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125077



Internal ID19270753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:5481059..5485159hg38UCSC Ensembl
OuterchrX:5399100..5403200hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4204n106
Supporting Variantsnssv3977883
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125077
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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