A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432985



Internal ID21394987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165762009..165762252hg38UCSC Ensembl
chr1:165731246..165731489hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n172
Supporting Variantsnssv15750631, nssv15746052, nssv15748575, nssv15753264, nssv15752446, nssv15751194, nssv15746627, nssv15749643, nssv15750009, nssv15753959, nssv15752785
SamplesNB12, SMI034, NB08, BTQ038, MDQ010, BTQ016, SMI041, NB11, NB07, MDQ025, NB09
Known GenesTMCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432985
Frequency
Sample Size15
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer