A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109642



Internal ID19266534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:142053969..142054066hg38UCSC Ensembl
Outerchr4:142975122..142975219hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957177
SamplesKWS1
Known GenesINPP4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109642
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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