A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068177



Internal ID19322000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229558252..229558753hg38UCSC Ensembl
chr1:229693999..229694500hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768550
SamplesKWP1
Known GenesABCB10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068177
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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