A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076981



Internal ID18972522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6179439..6180240hg38UCSC Ensembl
chr1:6239499..6240300hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3766151
SamplesKWP1
Known GenesCHD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076981
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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