A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967969



Internal ID19244153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13111300..13120020hg38UCSC Ensembl
Outerchr1:13178772..13187493hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388721
hg198722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122300
Supporting Variants
SamplesKWS2
Known GenesHNRNPCP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967969
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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