A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121166



Internal ID19263890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21417965..21419549hg38UCSC Ensembl
Outerchr17:21321277..21322861hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381585
hg191585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1436n106
Supporting Variantsnssv3965775, nssv3965623
SamplesKWS2, KWS1
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121166
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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