A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954581



Internal ID18862382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68241789..68269737hg38UCSC Ensembl
Outerchr17:66237930..66265878hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3827949
hg1927949
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116234
Supporting Variants
SamplesKWS1
Known GenesAMZ2, ARSG, SLC16A6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954581
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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