A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968372



Internal ID19237135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201911191..201914301hg38UCSC Ensembl
Outerchr2:202775914..202779024hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg383111
hg193111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121725
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968372
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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