A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969758



Internal ID18888144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:20170696..20171244hg38UCSC Ensembl
Outerchr1:20497189..20497737hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122306
Supporting Variants
SamplesKWS2
Known GenesPLA2G2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969758
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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