A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1073978



Internal ID18979249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51652599..51652886hg38UCSC Ensembl
chr6:51517397..51517684hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764912
SamplesKWP1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1073978
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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