A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980900



Internal ID18878289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10723001..10723401hg38UCSC Ensembl
Outerchr12:10875600..10876000hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118229
Supporting Variants
SamplesKWS1
Known GenesYBX3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980900
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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