A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3972082



Internal ID19237873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21417678..21417740hg38UCSC Ensembl
Outerchr17:21320990..21321052hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1123106
Supporting Variants
SamplesKWS2
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3972082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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