A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985857



Internal ID18877968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45569056..45569110hg38UCSC Ensembl
Outerchr2:45796195..45796249hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131463
Supporting Variants
SamplesKWS1
Known GenesSRBD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985857
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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