A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971323



Internal ID18879572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53527928..53528009hg38UCSC Ensembl
Outerchr12:53921712..53921793hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122736
Supporting Variants
SamplesKWS2
Known GenesATF7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971323
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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