A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964998



Internal ID19224859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45554577..45554662hg38UCSC Ensembl
Outerchr12:45948360..45948445hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129864
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964998
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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