A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967750



Internal ID19238587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:108849924..108850724hg38UCSC Ensembl
Outerchr12:109243700..109244500hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1131044
Supporting Variants
SamplesKWS2
Known GenesSSH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967750
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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