A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763752



Internal ID19313176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212909057..212914758hg38UCSC Ensembl
chr1:213082399..213088100hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg385702
hg195702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1068857
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763752
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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