A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143476



Internal ID18933630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215082957..215083457hg38UCSC Ensembl
Outerchr1:215256300..215256800hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980680
SamplesKWS1
Known GenesKCNK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143476
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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