A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144799



Internal ID19274161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:38532965..38533965hg38UCSC Ensembl
Outerchr17:36689200..36690200hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981394
SamplesKWS1
Known GenesSRCIN1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144799
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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