A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988131



Internal ID19204212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:9196114..9196191hg38UCSC Ensembl
Outerchr18:9196112..9196189hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133242
Supporting Variants
SamplesKWS1
Known GenesANKRD12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988131
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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