A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077836



Internal ID19318949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7174480..7176881hg38UCSC Ensembl
chr17:7077799..7080200hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg382402
hg192402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762801
SamplesKWP1
Known GenesASGR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077836
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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