A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074967



Internal ID19321102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1307719..1308120hg38UCSC Ensembl
chr1:1243099..1243500hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771481
SamplesKWP1
Known GenesACAP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074967
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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