A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990653



Internal ID19245313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13899389..13899884hg38UCSC Ensembl
Outerchr12:14052323..14052818hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1113463
Supporting Variants
SamplesKWS2
Known GenesGRIN2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990653
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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