A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762405



Internal ID19307228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14684536..14684607hg38UCSC Ensembl
chr12:14837470..14837541hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1069650
Supporting Variants
SamplesKWP1
Known GenesGUCY2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762405
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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