A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968758



Internal ID19231724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:20019182..20019238hg38UCSC Ensembl
Outerchr12:20172116..20172172hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1138112
Supporting Variants
SamplesKWS2
Known GenesLOC100506393
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968758
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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