A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997894



Internal ID18847191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10757457..10757507hg38UCSC Ensembl
Outerchr18:10757455..10757505hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152869
Supporting Variants
SamplesKWB1
Known GenesPIEZO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997894
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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