A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769649



Internal ID18957974
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 StatusS
Merged Variantsnsv1074571
Supporting Variants
SamplesKWP1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769649
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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