A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971689



Internal ID19244572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20028904..20028971hg38UCSC Ensembl
Outerchr12:20181838..20181905hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134206
Supporting Variants
SamplesKWS2
Known GenesLOC100506393
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971689
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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