A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984628



Internal ID19205332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:65865997..65866344hg38UCSC Ensembl
Outerchr18:63533233..63533580hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126384
Supporting Variants
SamplesKWS1
Known GenesCDH7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984628
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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