A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985668



Internal ID18875049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:50797563..50797651hg38UCSC Ensembl
Outerchr12:51191346..51191434hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127269
Supporting Variants
SamplesKWS1
Known GenesATF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985668
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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