A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989700



Internal ID18860272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26358150..26358420hg38UCSC Ensembl
Outerchr12:26511083..26511353hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136096
Supporting Variants
SamplesKWS1
Known GenesITPR2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989700
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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