A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075672



Internal ID18972635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18881651..18881706hg38UCSC Ensembl
chr1:19208145..19208200hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772344
SamplesKWP1
Known GenesALDH4A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075672
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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