A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132761



Internal ID19264045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:47784101..47796201hg38UCSC Ensembl
OuterchrX:47643500..47655600hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3812101
hg1912101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987551
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132761
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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