A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074175



Internal ID18974782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:61847961..61848148hg38UCSC Ensembl
chr4:62713679..62713866hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763628
SamplesKWP1
Known GenesLPHN3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074175
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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