A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148236



Internal ID18848448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:70349990..70350051hg38UCSC Ensembl
OuterchrX:69569840..69569901hg19UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001747
SamplesKWB1
Known GenesKIF4A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148236
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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