A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984704



Internal ID19214612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38453756..38454056hg38UCSC Ensembl
Outerchr17:36610000..36610300hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126455
Supporting Variants
SamplesKWS1
Known GenesARHGAP23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984704
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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