A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074571



Internal ID18971496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51871301..51872035hg38UCSC Ensembl
chr6:51736099..51736833hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38735
hg19735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769649
SamplesKWP1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074571
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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