A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145636



Internal ID18917233
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 StatusM
Merged Variants
Supporting Variantsnssv3983301
SamplesKWS1
Known GenesCCDC62
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1145636
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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