A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125084



Internal ID19265988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:23239383..23244283hg38UCSC Ensembl
OuterchrX:23257500..23262400hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993172, nssv3959772
SamplesKWS2, KWS1
Known GenesLOC100873065
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125084
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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