A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991347



Internal ID19234254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:22391927..22391983hg38UCSC Ensembl
Outerchr2:22614799..22614855hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138757
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991347
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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