A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4172n106



Internal ID22798000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:136431048..136431948hg38UCSC Ensembl
chr9:139325500..139326400hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1137678, nsv1144302
SamplesKWS2, KWS1
Known GenesINPP5E
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4172n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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