A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130904



Internal ID19255774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109446069..109450301hg38UCSC Ensembl
Outerchr1:109988691..109992923hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg384233
hg194233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966584, nssv3984352
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130904
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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