A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073498



Internal ID18972609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135033709..135034610hg38UCSC Ensembl
chr5:134369399..134370300hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764556
SamplesKWP1
Known GenesC5orf66, PITX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073498
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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