A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071303



Internal ID19322653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176509063..176509664hg38UCSC Ensembl
chr1:176478199..176478800hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768250
SamplesKWP1
Known GenesPAPPA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071303
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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