A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954633



Internal ID18863825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:57546977..57547028hg38UCSC Ensembl
Outerchr18:55214209..55214260hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116276
Supporting Variants
SamplesKWS1
Known GenesFECH
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954633
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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