A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076958



Internal ID18975216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4753009..4753077hg38UCSC Ensembl
chr1:4813069..4813137hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3764565
SamplesKWP1
Known GenesAJAP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076958
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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