A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3968504



Internal ID19242870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51217416..51218116hg38UCSC Ensembl
Outerchr12:51611200..51611900hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1121850
Supporting Variants
SamplesKWS2
Known GenesPOU6F1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3968504
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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