A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730273



Internal ID21401084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21320284..22701560hg38UCSC Ensembl
chr16:21331605..22712881hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381381277
hg191381277
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256830, nssv16257253, nssv16255911, nssv16257343, nssv16256926, nssv16257809, nssv16255959, nssv16257400, nssv16256114, nssv16258758, nssv16258729, nssv16257767, nssv16257752, nssv16258190, nssv16258132, nssv16256450, nssv16256723, nssv16258352, nssv16257180, nssv16257003
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC100190986, LOC100271836, LOC653786, METTL9, NPIPB3, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SLC7A5P2, SMG1P1, SNX29P1, UQCRC2, VWA3A
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730273
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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