A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123130



Internal ID18914271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39969909..39969969hg38UCSC Ensembl
Outerchr17:38126162..38126222hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3971133, nssv3991126
SamplesKWS1, KWS2
Known GenesGSDMA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123130
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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