A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073996



Internal ID18977695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:976519..978220hg38UCSC Ensembl
chr1:911899..913600hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764727
SamplesKWP1
Known GenesC1orf170
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073996
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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