A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512670



Internal ID15505409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:13881300..13883843hg38UCSC Ensembl
OuterchrX:13899419..13901962hg19UCSC Ensembl
OuterchrX:13809340..13811883hg18UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg382544
hg192544
hg182544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625290
Samples1
Known GenesGPM6B
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512670
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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