A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769541



Internal ID18961741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54008615..54009216hg38UCSC Ensembl
chr12:54402399..54403000hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1070530
Supporting Variants
SamplesKWP1
Known GenesHOXC8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769541
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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