A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967070



Internal ID18881244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:47426963..47427059hg38UCSC Ensembl
Outerchr2:47654102..47654198hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130750
Supporting Variants
SamplesKWS2
Known GenesMSH2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967070
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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