A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3767675



Internal ID19310444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132083954..132084855hg38UCSC Ensembl
chr12:132568499..132569400hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070570
Supporting Variants
SamplesKWP1
Known GenesEP400NL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3767675
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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