A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1070805



Internal ID18972770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7884281..7884982hg38UCSC Ensembl
chr17:7787599..7788300hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772301
SamplesKWP1
Known GenesCHD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1070805
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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