A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070570



Internal ID19323169
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 StatusM
Merged Variants
Supporting Variantsnssv3767675
SamplesKWP1
Known GenesEP400NL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070570
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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