A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984398



Internal ID19211902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:2314561..2315261hg38UCSC Ensembl
Outerchr1:2246000..2246700hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126169
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984398
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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