A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967644



Internal ID19207200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:21622490..21622812hg38UCSC Ensembl
Outerchr12:21775424..21775746hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130947
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967644
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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