A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971715



Internal ID18882423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57306839..57306908hg38UCSC Ensembl
Outerchr12:57700622..57700691hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134233
Supporting Variants
SamplesKWS2
Known GenesR3HDM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971715
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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