A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125109



Internal ID19261913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:88208299..88213699hg38UCSC Ensembl
OuterchrX:87463300..87468700hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4265n106
Supporting Variantsnssv3977914
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125109
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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