A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18248588



Internal ID20815628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216397966..226054144hg38UCSC Ensembl
chr1:216571308..226241845hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg389656179
hg199670538
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6540195
Supporting Variants
Samples
Known GenesAIDA, AURKAPS1, BPNT1, BROX, C1orf115, C1orf140, C1orf65, CAPN2, CAPN8, CNIH3, CNIH4, DEGS1, DISP1, DNAH14, DUSP10, ENAH, EPHX1, EPRS, ESRRG, FAM177B, FBXO28, GPATCH2, HHIPL2, HLX, IARS2, LBR, LEFTY1, LEFTY2, LINC00210, LOC643723, LOC728463, LYPLAL1, MARC1, MARC2, MARK1, MIA3, MIR194-1, MIR215, MIR320B2, MIR4742, MIR664, MIR6741, NVL, PYCR2, RAB3GAP2, RNU5F-1, RRP15, SDE2, SLC30A10, SNORA36B, SPATA17, SRP9, SUSD4, TAF1A, TGFB2, TLR5, TMEM63A, TP53BP2, USH2A, WDR26
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18248588
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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