A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367898



Internal ID22593567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1264791..1546719hg38UCSC Ensembl
chr1:1200171..1482099hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38281929
hg19281929
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881509
Supporting Variants
Samples
Known GenesACAP3, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, CCNL2, CPSF3L, DVL1, GLTPD1, LOC148413, MIR6726, MIR6727, MIR6808, MRPL20, MXRA8, PUSL1, SCNN1D, SSU72, TAS1R3, TMEM240, TMEM88B, UBE2J2, VWA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367898
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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