A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3764556



Internal ID18961541
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 StatusS
Merged Variantsnsv1073498
Supporting Variants
SamplesKWP1
Known GenesC5orf66, PITX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3764556
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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