A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6346585



Internal ID21004138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219120801..219643000hg38UCSC Ensembl
chr2:219985523..220507722hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38522200
hg19522200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4287n223
Supporting Variantsnssv18205638
Samples
Known GenesABCB6, ANKZF1, ASIC4, ATG9A, CHPF, CNPPD1, DES, DNAJB2, DNPEP, FAM134A, GLB1L, GMPPA, INHA, LOC100996693, MIR153-1, MIR3132, NHEJ1, OBSL1, PTPRN, RESP18, SLC23A3, SLC4A3, SPEG, STK11IP, STK16, TMEM198, TUBA4A, TUBA4B, ZFAND2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6346585
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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