A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3763411



Internal ID18963893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206684654..206685655hg38UCSC Ensembl
chr1:206857999..206859000hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1068832
Supporting Variants
SamplesKWP1
Known GenesMAPKAPK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3763411
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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