A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000273



Internal ID16946539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21362389..21399888hg38UCSC Ensembl
Outerchr17:21265701..21303200hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3837500
hg1937500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953854
Supporting Variants
SamplesBILGI_BIOE
Known GenesKCNJ12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000273
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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