A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3766708



Internal ID19310588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56951672..56952173hg38UCSC Ensembl
chr5:56247499..56248000hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1074832
Supporting Variants
SamplesKWP1
Known GenesMIER3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3766708
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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