A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113463



Internal ID19269864
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 StatusM
Merged Variants
Supporting Variantsnssv3990653, nssv3985644
SamplesKWS2, KWS1
Known GenesGRIN2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113463
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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