A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126313



Internal ID19259276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22418366..22432066hg38UCSC Ensembl
Outerchr12:22571300..22585000hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3813701
hg1913701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv781n106
Supporting Variantsnssv3984550
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126313
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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