A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078582



Internal ID18974336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44254300..44259201hg38UCSC Ensembl
chr7:44293899..44298800hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg384902
hg194902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768307
SamplesKWP1
Known GenesCAMK2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078582
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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