A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147187



Internal ID18848583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:140723034..140728335hg38UCSC Ensembl
OuterchrX:139805199..139810500hg19UCSC Ensembl
CytobandXq27.1
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999962
SamplesKWB1
Known GenesLINC00632
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147187
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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