A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983301



Internal ID18862629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122782654..122782710hg38UCSC Ensembl
Outerchr12:123267201..123267257hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1145636
Supporting Variants
SamplesKWS1
Known GenesCCDC62
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983301
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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