A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122425



Internal ID18916473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179480938..179480989hg38UCSC Ensembl
Outerchr1:179450073..179450124hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970632
SamplesKWS2
Known GenesAXDND1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122425
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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