A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767542



Internal ID19313104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2750785..2752186hg38UCSC Ensembl
chr5:2750899..2752300hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1074267
Supporting Variants
SamplesKWP1
Known GenesC5orf38, IRX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767542
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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