A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989914



Internal ID19235630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42568360..42569260hg38UCSC Ensembl
Outerchr2:42795500..42796400hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136297
Supporting Variants
SamplesKWS2
Known GenesMTA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989914
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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