A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995459



Internal ID19225871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:12781587..12781791hg38UCSC Ensembl
Outerchr12:12934521..12934725hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144608
Supporting Variants
SamplesKWS1
Known GenesAPOLD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995459
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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