A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072313



Internal ID18977312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6413088..6414189hg38UCSC Ensembl
chr19:6413099..6414200hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763631
SamplesKWP1
Known GenesKHSRP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072313
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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