A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142566



Internal ID18900961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13861059..13861144hg38UCSC Ensembl
OuterchrX:13879178..13879263hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994052
SamplesKWS2
Known GenesGPM6B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142566
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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