A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135692



Internal ID18921938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1256454..1257288hg38UCSC Ensembl
Outerchr12:1365620..1366454hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv749n106
Supporting Variantsnssv3989273
SamplesKWS1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135692
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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