A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135041



Internal ID19286854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21417994..21419508hg38UCSC Ensembl
Outerchr17:21321306..21322820hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381515
hg191515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1436n106
Supporting Variantsnssv3988588
SamplesKWS2
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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